Publication Information

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2463, 2496, 2542, 2546, 2579, 2617, 2676, 2692, 2710, 2731, 2855, 2955, 2990, 3086, 3097, 3130, 3234, 3269, 3287, 3332, 3353, 3487, 3501, 3523, 3542, 3567, 3632, 3647, 3668, 3678, 3694, 3699, 3707, 3729, 3774, 3808, 3823, 3848, 3882, 3897, 3922, 3938, 3970, 3996, 4023, 4034, 4059, 4254, 4266, 4289, 4297, 4345, 4373, 4391, 4402, 4418, 4456, 4462, 4475, 4488, 4510, 4520, 4526, 4545, 4548, 4572, 4579, 4607, 4645, 4688, 4715, 4727, 4768, 4837, 4901, 4911, 4948, 4978, 5019, 5050], 'abnormal': [11, 213, 634], 'metabolism': [12, 214, 809, 1378, 1602, 4913], 'of': [13, 34, 37, 118, 126, 165, 191, 215, 236, 239, 320, 328, 367, 393, 446, 556, 819, 845, 868, 883, 885, 919, 984, 997, 1075, 1080, 1099, 1137, 1154, 1161, 1167, 1205, 1299, 1355, 1420, 1439, 1466, 1479, 1499, 1570, 1594, 1623, 1669, 1685, 1688, 1759, 1775, 1884, 1893, 1926, 1933, 1959, 1974, 2117, 2136, 2150, 2250, 2292, 2521, 2544, 2688, 2762, 2884, 2916, 2993, 3063, 3089, 3276, 3294, 3347, 3381, 3406, 3423, 3496, 3510, 3526, 3553, 3624, 3660, 3690, 3704, 3726, 3763, 3766, 3837, 3840, 3912, 3933, 3952, 4017, 4051, 4070, 4086, 4125, 4130, 4139, 4149, 4163, 4173, 4186, 4189, 4197, 4286, 4380, 4398, 4427, 4439, 4458, 4477, 4483, 4508, 4577, 4588, 4620, 4627, 4659, 4670, 4685, 4808, 4878, 4903, 4917, 4957, 4974, 4976, 5073, 5078], 'the': [14, 65, 154, 173, 189, 196, 216, 267, 356, 375, 391, 398, 644, 731, 797, 817, 866, 869, 881, 995, 1100, 1145, 1152, 1159, 1189, 1203, 1480, 1485, 1572, 1592, 1686, 1689, 1790, 1881, 1891, 1894, 1947, 2137, 2151, 2420, 2428, 2717, 2725, 2774, 2822, 2826, 2893, 3039, 3079, 3082, 3107, 3135, 3167, 3173, 3190, 3225, 3235, 3348, 3379, 3399, 3403, 3407, 3412, 3420, 3424, 3456, 3471, 3494, 3497, 3524, 3527, 3533, 3543, 3551, 3570, 3576, 3586, 3608, 3648, 3657, 3672, 3679, 3720, 3747, 3764, 3775, 3779, 3786, 3805, 3809, 3816, 3820, 3838, 3849, 3853, 3860, 3879, 3883, 3890, 3894, 4002, 4018, 4048, 4068, 4084, 4131, 4147, 4158, 4316, 4540, 4550, 4554, 4580, 4586, 4600, 4621, 4628, 4657, 4671, 4678, 4686, 4689, 4797, 4979, 5109, 5129], 'mitochondrial': [15, 217, 490, 1191, 1222, 1472, 2453, 2750, 5081], 'phospholipid': [16, 218, 808, 870], 'cardiolipin': [17, 219, 413, 846, 871, 985, 1112, 1169, 1356, 1434, 1467, 1483], '(CL).': [18, 220], 'CLs': [19, 79, 221, 281, 4578], 'are': [20, 29, 167, 222, 231, 369, 449, 1422, 1577, 1935, 2209, 2264, 3520, 3564, 3630, 3717, 3914, 4021, 4176, 4410, 4472, 4603, 4810, 4869], 'decreased': [21, 38, 223, 240, 4187], 'and': [22, 63, 72, 80, 91, 96, 145, 171, 224, 265, 274, 282, 293, 298, 347, 373, 435, 462, 497, 530, 553, 559, 587, 638, 641, 650, 657, 676, 708, 810, 847, 903, 981, 1037, 1073, 1140, 1163, 1171, 1193, 1210, 1219, 1241, 1273, 1328, 1379, 1404, 1418, 1442, 1484, 1504, 1538, 1588, 1603, 1621, 1651, 1683, 1728, 1761, 1784, 1789, 1886, 1890, 1966, 2030, 2115, 2134, 2147, 2240, 2307, 2424, 2519, 2598, 2615, 2721, 2766, 2773, 2785, 2790, 2816, 2825, 2846, 2871, 2874, 2892, 2911, 2918, 2995, 3018, 3140, 3158, 3166, 3189, 3240, 3243, 3281, 3304, 3358, 3362, 3367, 3384, 3391, 3411, 3429, 3444, 3468, 3481, 3504, 3518, 3546, 3562, 3581, 3591, 3597, 3610, 3613, 3618, 3626, 3710, 3732, 3770, 3778, 3796, 3844, 3852, 3870, 3928, 3962, 3977, 4001, 4008, 4011, 4031, 4036, 4042, 4045, 4067, 4146, 4209, 4258, 4377, 4480, 4485, 4553, 4574, 4583, 4681, 4719, 4920, 4938, 4967, 5025, 5113, 5131], 'monolysocardiolipins': [23, 225, 1076], '(MLCLs),': [24, 226, 1077], 'intermediates': [25, 227], 'CL': [27, 39, 119, 184, 229, 241, 321, 386, 886, 899, 1071, 1084, 1139, 1162, 1183, 1198, 1397, 1410, 1503, 1586, 1760, 1885, 1906, 3139, 3242, 3297, 3303, 3357, 3361, 3383, 3410, 3480, 3499, 3511, 3580, 3609, 3617, 3638, 3705, 3767, 3841, 4032, 4287, 4486, 4498, 4591, 4921], 'metabolism,': [28, 230, 4428], 'increased': [30, 232, 554, 1931, 3910, 4437, 4474, 4506, 4524, 4606, 4806], 'a': [32, 49, 69, 115, 123, 179, 234, 251, 271, 317, 325, 381, 1043, 1066, 1078, 1105, 1109, 1544, 1580, 1734, 1768, 1797, 1873, 1898, 2693, 2711, 3003, 3008, 3111, 3148, 3273, 3291, 3333, 3488, 3502, 3505, 3622, 4096, 4102, 4111, 4117, 4207, 4264, 4292, 4305, 4440, 4453, 4459, 4491, 4575, 4725, 4888, 4923, 4933, 4969, 5042, 5075, 5087], 'variety': [33, 235], 'tissues.': [35, 237, 1803], 'Measurement': [36, 238, 3062], 'levels': [40, 242, 1136, 1758, 1774, 1909, 3446, 3509, 3552, 3612, 3765, 3839, 3951, 4033, 4288, 4390, 4449, 4471, 4487, 4868, 4897], 'skin': [42, 83, 244, 285, 1047, 1548, 1738, 4268, 4729], 'fibroblasts': [43, 84, 129, 144, 177, 245, 286, 331, 346, 379, 658, 1755, 1889, 3525, 3568, 3681, 3692, 4290, 4404, 4409, 4476, 4489, 4528, 4610, 4615, 4647, 4877, 4902], 'has': [44, 246, 802, 1398, 1412, 1694], 'previously': [45, 247, 1979, 2160, 4320], 'been': [46, 248, 653, 1695, 1978], 'proposed': [47, 249, 4946], 'as': [48, 250, 1767, 1897, 2158, 2926, 2984, 3134, 3193, 4291], 'diagnostic': [50, 181, 252, 383, 1769, 1799, 1814, 1901, 4293, 4420, 4493, 4594, 4926], 'test': [51, 253, 4212, 4927, 4945], 'for': [52, 61, 75, 169, 254, 263, 277, 371, 759, 994, 1201, 1771, 1813, 1876, 1903, 2000, 2074, 2188, 2483, 2566, 2645, 2897, 2981, 3011, 3028, 3278, 3296, 3441, 3621, 3804, 3878, 3916, 3993, 4015, 4179, 4295, 4405, 4423, 4812, 4873, 4955, 5027, 5138], 'BTHS.': [53, 76, 201, 255, 278, 403, 1772, 1877, 1938, 1952, 4092], 'We': [54, 77, 160, 186, 256, 279, 362, 388, 1878, 1911, 4027, 4081, 4394], 'investigated': [55, 257, 1913, 4395], 'whether': [56, 64, 258, 266, 1869, 1930, 3909, 4396, 4805], 'elevated': [57, 259, 2366, 2399, 2403, 3414, 3566, 3950, 4372, 4542, 4561, 4866], 'MLCL': [58, 127, 260, 329, 1141, 1791, 1870, 1887, 1908, 1934, 3141, 3244, 3279, 3305, 3359, 3363, 3385, 3415, 3482, 3537, 3554, 3582, 3611, 3619, 3661, 3727, 3771, 3845, 3913, 4030, 4052, 4470, 4484, 4509, 4543, 4557, 4589, 4644, 4867, 4896, 4919], 'specific': [60, 73, 168, 262, 275, 370, 1874, 3915, 4178, 4811, 4872], 'BTHS': [62, 87, 103, 131, 149, 170, 264, 289, 305, 333, 351, 372, 457, 631, 725, 878, 896, 1509, 1670, 1787, 1904, 1927, 1961, 2152, 2422, 2719, 3506, 3528, 3571, 3590, 3627, 3649, 3669, 3680, 3733, 3776, 3850, 3934, 4003, 4035, 4040, 4060, 4126, 4164, 4180, 4296, 4381, 4478, 4511, 4527, 4608, 4646, 4813, 4874, 4966, 5053], 'MLCL-to-CL': [66, 268, 1895], 'ratio': [67, 156, 175, 269, 358, 377, 1896, 3677, 4069, 4587, 4623], 'more': [70, 272, 1899, 4412, 4432, 4605], 'sensitive': [71, 273, 1900, 4433], 'marker': [74, 182, 276, 384, 1800, 1875, 1902], 'measured': [78, 280, 3919, 4029], 'MLCLs': [81, 166, 283, 368, 1596, 1776, 1805, 4318, 4399, 4525, 4573, 4809], 'from': [85, 130, 140, 146, 287, 332, 342, 348, 1196, 1333, 1626, 1786, 1916, 2769, 2793, 2799, 2810, 3144, 3259, 3282, 3569, 3975, 3982], '5': [86, 288, 2421, 2718, 2786, 2898], 'patients,': [88, 290, 1788, 2423, 2720, 4298, 4875], '8': [89, 291], 'controls,': [90, 292], '14': [92, 294, 2429, 2726, 3923], 'patients': [93, 132, 295, 334, 455, 632, 876, 1510, 1678, 1917, 1962, 1976, 2138, 2156, 2251, 2430, 2727, 3448, 3807, 3881, 3924, 3948, 4004, 4041, 4382, 4479, 4905, 4958, 4984, 5020], 'with': [94, 122, 135, 296, 324, 337, 456, 583, 877, 891, 895, 955, 1065, 1108, 1132, 1918, 1963, 2252, 2286, 2431, 2538, 2695, 2728, 2835, 2842, 2850, 2860, 2908, 2913, 3007, 3128, 3532, 3575, 3653, 3688, 3949, 4064, 4613, 4631, 4880, 4887, 4959, 4985, 4987, 4992, 5021, 5041, 5048, 5052], 'biochemical': [95, 297, 1921, 1967, 3929, 4211, 4312, 4884, 4962], 'clinical': [97, 299, 444, 1919, 1965, 2113, 2517, 3927, 4218, 4882, 4960], 'findings': [98, 300], 'similar': [99, 301, 1923, 4881], 'to': [100, 302, 438, 779, 804, 1083, 1470, 1583, 1795, 1846, 1924, 1928, 1937, 2028, 2034, 2120, 2233, 2448, 2524, 2596, 2602, 2745, 2962, 3037, 3199, 3206, 3217, 3267, 3285, 3301, 3355, 3377, 3397, 3434, 3606, 3746, 3958, 4224, 4352, 4370, 4434, 4451, 4568, 4584, 4590, 4596, 4642, 4656, 4775, 4844, 4899, 4907, 4932, 4944], 'those': [101, 303, 1925, 2155, 3932, 4900], '(group': [104, 306, 2437, 2734, 4914], 'D),': [105, 307], 'using': [106, 308, 3002, 3065, 3151, 3455, 4299], 'high': [107, 309, 4300, 4972], 'performance': [108, 310, 4301], 'liquid': [109, 311, 4302], 'chromatography-mass': [110, 312, 4303], 'spectrometry.': [111, 313], 'Our': [112, 314, 4465], 'showed': [114, 316, 795, 3585], 'clear': [116, 318], 'decrease': [117, 319, 4455, 4576], 'combination': [121, 323], 'marked': [124, 326], 'increase': [125, 327, 4571], 'when': [133, 335, 889, 3530, 3573, 3651, 3686, 4062, 4611, 4648], 'compared': [134, 336, 890, 3531, 3574, 3652, 3687, 4063, 4612], 'controls.': [136, 338], 'MLCL/CL': [137, 155, 174, 339, 357, 376, 3614, 3674, 3802, 3876, 3920, 3968, 3994, 4071, 4601, 4622], 'ratios': [138, 340, 3803, 3877, 3921, 3969, 3995, 4602], 'ranged': [139, 341, 3974], '0.03–0.12': [141, 343], 'control': [143, 345, 892, 3450, 3465, 3503, 3534, 3577, 3592, 3625, 3654, 3691, 3709, 3731, 3781, 3855, 3971, 3983, 4037, 4065, 4517, 4533, 4614, 4904], '5.41–13.83': [147, 349], 'fibroblasts.': [150, 352, 3535, 3578, 3655, 3670, 3714, 3734, 4393], 'In': [151, 353, 1953, 4799], 'group': [152, 354, 2225, 2242, 2262, 3451, 3777, 3851, 3943, 3946, 3972, 3984, 3997, 3999, 4893], 'D,': [153, 355, 4000], 'range': [157, 359, 3623], 'was': [158, 360, 823, 873, 887, 1506, 1793, 1866, 2798, 2808, 2890, 2905, 3026, 3035, 3084, 3104, 3117, 3132, 3169, 3184, 3192, 3232, 3255, 3417, 3431, 4074, 4539, 4803, 5106], '0.02–0.06.': [159, 361], 'therefore': [161, 363, 3604], 'conclude': [162, 364], 'elevations': [164, 366, 1074, 4172, 4397], 'better': [180, 382, 4492], 'than': [183, 385, 1905, 4414, 4450, 4495], 'alone.': [185, 387, 1910], 'also': [187, 389, 1778, 1912, 3375, 3540, 4028, 4082, 4202, 4624, 4951], 'report': [188, 390, 1941, 4083], 'finding': [190, 392, 4085, 4185], 'two': [192, 394, 1405, 1942, 2135, 2222, 3601, 4043, 4087, 4406], 'novel': [193, 395, 753, 1994, 2140, 2477, 2560, 4088, 4097, 4112, 5088], 'mutations': [194, 396, 729, 1682, 1944, 4089, 4977], 'TAZ': [197, 399, 799, 813, 1068, 1102, 1148, 1690, 1948, 2668, 4132, 4151, 4980], 'gene': [198, 400, 800, 1069, 1103, 1949, 2070, 2118, 2153, 2184, 2338, 2348, 2357, 2370, 2380, 2522, 2641, 2669, 4133, 4226], 'cause': [200, 402, 1951, 4091], 'Abbreviations': [404], 'BTHSBarth': [405], 'SyndromeCLcardiolipinMLCLmonolysocardiolipinm/z−,': [406], 'mass-to-charge': [407, 3260, 3325, 3341, 3738], 'rationegative': [408], 'ion': [409, 416, 3263, 3328, 3344, 3741], 'modeTAZtafazzin': [410], 'monolysocardiolipin': [414, 1173, 1300, 1624], 'negative': [415, 3236, 3262, 3327, 3343, 3740], 'mode': [417, 3264, 3742], 'tafazzin': [418, 732], '(BTHS,': [421], 'MIM': [422, 1041, 1542, 1732, 4262, 4723], '302060)': [423], 'which': [429, 735, 3023], 'can': [430, 607, 1764, 4134, 4193, 4929], 'be': [431, 609, 777, 1765, 1796, 4135, 4221, 4371, 4566, 4930, 4942], 'fatal': [432, 2024, 2592], 'infants': [434], 'children': [436, 954], 'due': [437, 778], 'cardiac': [439, 493, 637], 'failure': [440, 2447, 2744, 3957], 'or': [441, 1907, 1920, 3453, 4883, 4961, 4971, 4988, 5040], 'sepsis.': [442], 'The': [443, 2804, 2903, 3031, 3115, 3138, 3181, 3229, 3508, 3536, 3579, 3616, 3636, 3715, 3735, 3783, 3812, 3857, 3886, 3967, 3989, 4184, 4535, 4636, 5125], 'symptoms': [445, 1922], 'this': [447, 1590, 1763, 1954, 3100, 3430, 4200, 4597, 5139], 'disease': [448, 491], 'variable': [450], 'severity,': [452], 'but': [453, 1842, 2340, 2350, 2359, 2372, 2382, 2671, 2958, 3935, 4171, 4199, 4348, 4383, 4519, 4547, 4771, 4840, 4886], 'typically': [454, 1423], 'have': [458, 633, 652, 897, 1679, 1977, 2234, 4895, 4908], 'neutropenia,': [459, 584, 2280, 2299], 'cardioskeletal': [460, 528, 674, 706, 1035, 1239, 1271, 1536, 1726, 4256, 4717], 'myopathy,': [461], 'short': [463], 'stature': [464], '(1Barth': [465], 'P.G.': [466, 514, 660, 694, 842, 974, 1030, 1092, 1225, 1259, 1531, 1721, 1827, 1835, 2060, 2174, 2631, 2943, 2951, 4251, 4333, 4341, 4712, 4756, 4764, 4825, 4833], 'Scholte': [467], 'H.R.': [468], 'Berden': [469], 'J.A.': [470, 909, 940, 1823, 2939, 4329, 4752, 4821], 'Van': [471, 478, 482, 1018, 1519, 1709, 4239, 4700], 'der': [472, 483], 'Klei-Van': [473], 'Moorsel': [474], 'J.M.': [475, 1825, 2941, 4331, 4754, 4823], 'Luyt-Houwen': [476], 'I.E.': [477], "'t": [479], 'Veer-Korthof': [480], 'E.T.': [481], 'Harten': [484], 'J.J.': [485, 2682], 'Sobotka-Plojhar': [486], 'M.A.': [487, 571], 'An': [488], 'affecting': [492], 'muscle,': [494, 640, 1781, 4376], 'skeletal': [495, 639, 4375], 'muscle': [496, 656, 2300, 2324, 2364, 2389, 2394, 3960], 'neutrophil': [498], 'leucocytes..J.': [499], 'Neurol.': [500, 924], 'Sci.': [501], '1983;': [502], '62:': [503], '327-355Abstract': [504], 'Full': [505, 594, 787, 789, 1053, 1055, 1119, 1121, 1309, 1311, 1554, 1556, 1635, 1637, 1744, 1746, 1854, 1856, 2085, 2199, 2656, 2970, 2972, 4274, 4276, 4360, 4362, 4735, 4737, 4783, 4785, 4852, 4854], 'Text': [506, 595, 788, 790, 1054, 1056, 1120, 1122, 1310, 1312, 1555, 1557, 1636, 1638, 1745, 1747, 1855, 1857, 2086, 2200, 2657, 2971, 2973, 4275, 4277, 4361, 4363, 4736, 4738, 4784, 4786, 4853, 4855], 'PDF': [507, 596, 791, 1057, 1123, 1313, 1558, 1639, 1748, 1858, 2087, 2201, 2658, 2974, 4278, 4364, 4739, 4787, 4856], 'PubMed': [508, 597, 628, 720, 766, 792, 858, 928, 964, 1005, 1058, 1124, 1285, 1314, 1339, 1368, 1387, 1451, 1493, 1559, 1611, 1640, 1662, 1749, 1859, 2007, 2042, 2088, 2129, 2202, 2490, 2533, 2573, 2610, 2659, 2703, 2975, 3072, 4279, 4365, 4740, 4788, 4857, 5035, 5099], 'Scopus': [509, 543, 598, 689, 721, 767, 859, 929, 965, 1006, 1059, 1125, 1254, 1286, 1340, 1369, 1388, 1452, 1494, 1560, 1612, 1641, 1663, 1750, 1860, 2008, 2043, 2089, 2130, 2203, 2491, 2534, 2574, 2611, 2660, 2704, 2976, 3073, 4280, 4366, 4741, 4789, 4858, 5036, 5100], '(566)': [510], 'Google': [511, 545, 600, 629, 691, 723, 769, 793, 861, 931, 967, 1008, 1061, 1127, 1256, 1288, 1315, 1342, 1371, 1390, 1454, 1496, 1562, 1614, 1643, 1665, 1752, 1862, 2010, 2045, 2091, 2132, 2205, 2493, 2536, 2576, 2613, 2662, 2706, 2978, 3075, 4282, 4368, 4743, 4791, 4860, 5038, 5102], 'Scholar,': [512, 692, 932, 968, 1009, 1257, 1289, 1316, 1343, 1372, 1455, 1615, 1644, 2011, 2046, 2092, 4744], '2Barth': [513], 'Valianpour': [515, 661, 831, 1089, 1226, 1698, 2929, 4228, 4501, 4649, 4662], 'F.': [516, 662, 704, 832, 970, 1011, 1022, 1090, 1227, 1269, 1322, 1512, 1523, 1702, 1713, 1817, 2933, 4232, 4243, 4323, 4693, 4704, 4746, 4815, 4999], 'Bowen': [517, 663, 1228], 'V.M.': [518, 664, 1229], 'Lam': [519, 665, 701, 1230, 1266], 'J.': [520, 536, 666, 682, 702, 1231, 1247, 1267, 1324, 1446, 1488, 1658, 2079, 2106, 2123, 2193, 2510, 2527, 2650, 2698], 'Duran': [521, 667, 1232], 'M.': [522, 668, 907, 934, 1233, 1347, 1428, 1457, 1461, 1463, 1646, 2062, 2100, 2176, 2504, 2633], 'Vaz': [523, 669, 1234], 'F.M.': [524, 670, 1086, 1235], 'Wanders': [525, 671, 695, 839, 945, 971, 1012, 1093, 1236, 1260, 1513, 1703, 1832, 2948, 4233, 4338, 4694, 4761, 4830], 'R.J.': [526, 672, 696, 840, 946, 972, 1013, 1094, 1237, 1261, 1320, 1514, 1704, 1833, 2949, 4234, 4339, 4695, 4762, 4831], 'myopathy': [529, 675, 707, 1036, 1240, 1272, 1537, 1727, 4257, 4718], 'neutropenia': [531, 677, 709, 1038, 1242, 1274, 1539, 1729, 4259, 4720], '(Barth': [532, 678, 710, 1039, 1243, 1275, 1540, 1730, 4260, 4721], 'syndrome):': [533, 679, 1244], 'update..Am.': [535, 681, 1246], 'Med.': [537, 683, 1248, 2037, 2124, 2528, 2605, 5094], 'Genet.': [538, 684, 762, 1249, 2003, 2038, 2081, 2125, 2195, 2486, 2529, 2569, 2606, 2652, 5030, 5095], 'A.': [539, 685, 938, 1250, 1831, 2052, 2166, 2623, 2947, 4337, 4760, 4829, 5013, 5061], '2004;': [540, 625, 686, 1251], '126:': [541, 687, 1252], '349-354Crossref': [542, 688, 1253], '(230)': [544, 690, 1255], 'Scholar).': [546, 630, 724, 770, 1062, 1128, 1391, 1497, 1563, 1666, 1863, 2206, 2707, 3076, 4861, 5103], 'Biochemical': [547], 'parameters': [548], 'include': [549, 4983], 'low': [550, 898, 1757, 4389, 4448, 4970], 'blood': [551], 'cholesterol': [552], 'amounts': [555, 1932, 3911, 4507, 4807], '3-methylglutaconic,': [557], '3-methylglutaric,': [558], '2-ethylhydracrylic': [560], 'acids': [561], 'urine': [563, 603], '(3Kelley': [564], 'R.I.': [565, 936, 3045], 'Cheatham': [566], 'J.P.': [567], 'Clark': [568], 'B.J.': [569, 1291, 3059], 'Nigro': [570], 'Powell': [572], 'B.R.': [573], 'Sherwood': [574], 'G.W.': [575], 'Sladky': [576], 'J.T.': [577], 'Swisher': [578], 'W.P.': [579], 'dilated': [581, 2077, 2191, 2281, 2302, 2326, 2648, 3955], 'cardiomyopathy': [582, 2026, 2594, 4986], 'growth': [585], 'retardation,': [586], '3-methylglutaconic': [588, 622, 2440, 2696, 2737, 3953, 4167, 4174, 4990], 'aciduria..J.': [589], 'Pediatr.': [590, 1049, 1550, 1740, 2699, 4270, 4731], '1991;': [591, 1490], '119:': [592], '738-747Abstract': [593], '(224)': [599, 930], 'Scholar),': [601, 862, 2133, 2979, 4792, 5039], 'although': [602], 'organic': [604], 'acid': [605, 1415, 1425, 1501, 1574, 4168, 4175], 'analysis': [606, 4129, 5018], 'sometimes': [608], 'normal': [610, 888, 1133], '(4Schmidt': [611], 'M.R.': [612], 'Birkebaek': [613], 'N.': [614, 5011], 'Gonzalez': [615], 'I.': [616], 'Sunde': [617], 'L.': [618, 2050, 2164, 2621], 'syndrome': [620, 775, 999, 1841, 2957, 4347, 4770, 4839, 5047], 'without': [621, 4989], 'aciduria..Acta': [623], 'Paediatr.': [624], '93:': [626], '419-421Crossref': [627], 'mitochondria': [635], 'defects': [642], 'respiratory': [645, 1207, 2443, 2740, 3963, 4190], 'chain': [646, 1208, 2444, 2741, 3964, 4191], 'complexes': [647, 1209], 'I,': [648], 'III,': [649], 'IV': [651, 2393], 'reported': [654, 1696, 2319, 2330, 2666, 4321], '(2Barth': [659, 1224], '5Barth': [693, 1258], 'Vreken': [697, 826, 1016, 1262, 1517, 1707, 4237, 4698], 'P.': [698, 743, 830, 1017, 1263, 1518, 1708, 1984, 2048, 2162, 2467, 2550, 2619, 4238, 4699, 5065], 'Janssen': [699, 1264, 2053, 2167, 2624], 'E.A.': [700, 1265, 2054, 2168, 2625, 2678], 'Baas': [703, 1021, 1268, 1522, 1712, 4242, 4703], 'syndrome)': [711, 1276], '(MIM': [712, 1277], '302060)..J.': [713, 1278], 'Inherit.': [714, 1279], 'Metab.': [715, 1280, 5031], 'Dis.': [716, 1281], '1999;': [717, 1282, 1306], '22:': [718, 1283], '555-567Crossref': [719, 1284], '(113)': [722, 1126, 1287], 'caused': [727], 'by': [728, 825, 988, 1579, 1671, 1697, 2928, 3110, 3147, 3257, 3419, 4127, 5108], '(TAZ)': [733], 'gene,': [734, 755, 1996, 2479, 2562], 'located': [737], 'at': [738, 2314, 2876, 2900, 2921, 3014, 3119, 3186, 3272, 3290, 3365, 3737, 4105, 4310, 4387, 4446], 'Xq28': [739, 2029, 2597], '(6Bione': [740, 1981, 2464, 2547], 'S.': [741, 915, 948, 1430, 1982, 2056, 2170, 2465, 2548, 2627], "D'Adamo": [742, 1983, 2466, 2549], 'Maestrini': [744, 1985, 2468, 2551], 'E.': [745, 1345, 1986, 2064, 2178, 2469, 2552, 2635], 'Gedeon': [746, 1987, 2051, 2095, 2165, 2470, 2499, 2553, 2622], 'A.K.': [747, 1988, 2013, 2096, 2471, 2500, 2554, 2581, 3049], 'Bolhuis': [748, 1989, 2057, 2171, 2472, 2555, 2628], 'P.A.': [749, 1990, 2058, 2172, 2473, 2556, 2629], 'Toniolo': [750, 1991, 2474, 2557], 'D.': [751, 1821, 1992, 2475, 2558, 2937, 4327, 4750, 4819], 'A': [752, 1993, 2476, 2559, 3122, 3153, 3760, 3834], 'G4.5,': [756, 1997, 2480, 2563], 'responsible': [758, 1999, 2073, 2187, 2482, 2565, 2644], 'syndrome..Nat.': [761, 2002, 2485, 2568], '1996;': [763, 2004, 2487, 2570], '12:': [764, 2005, 2488, 2571], '385-389Crossref': [765, 2006, 2489, 2572], '(621)': [768, 2009, 2492, 2575], 'Neuwald': [771], '(7Neuwald': [772], 'A.F.': [773], 'may': [776, 4220], 'acyltransferase': [781, 1625], 'deficiency..Curr.': [782], 'Biol.': [783, 1114, 1630], '1997;': [784, 2082, 2196, 2653], '7:': [785], 'R465-R466Abstract': [786], 'Scholar)': [794, 1753, 2537, 2614, 4283, 4369], 'predicted': [798], 'product': [801], 'homology': [803], 'acyltransferases': [805], 'involved': [806, 815, 1150], 'suggested': [811], 'remodeling': [818, 844, 1153], 'phospholipids.': [820, 1473], 'This': [821, 1143, 3254, 3945, 4950, 5104], 'proposal': [822], 'substantiated': [824], 'et': [827, 1699, 1836, 2067, 2181, 2638, 2930, 2952, 4229, 4342, 4502, 4650, 4663, 4765, 4834, 5016], 'al.': [828, 1700, 2931, 4230, 4651, 4664], '(8Vreken': [829], 'Nijtmans': [833], 'L.G.': [834], 'Grivell': [835], 'L.A.': [836], 'Plecko': [837, 1023, 1524, 1714, 4244, 4705], 'B.': [838, 1024, 1525, 1648, 1715, 3223, 4026, 4245, 4706], 'Defective': [843], 'phosphatidylglycerol': [848, 1505], 'syndrome..Biochem.': [851], 'Biophys.': [852], 'Res.': [853, 1305, 1383, 1607, 1850, 2966, 4356, 4779, 4848], 'Commun.': [854], '2000;': [855], '279:': [856], '378-382Crossref': [857], '(309)': [860], 'who': [863, 3925, 3936, 5134], 'found': [864, 1187, 1779, 1794, 1945, 2289, 2541, 4046, 4385, 4505, 4523], 'amount': [867, 3659, 4050, 4438, 4457, 4658], '(CL)': [872, 1170], 'lowered': [874], 'even': [879], 'though': [880], 'rate': [882], 'biosynthesis': [884], 'cells.': [893], 'Patients': [894], 'platelets,': [901], 'fibroblasts,': [902, 1810, 4546], 'other': [904, 1221, 1471, 3382], 'tissues': [905], '(9Schlame': [906], 'Towbin': [908, 939, 1822, 2938, 4328, 4751, 4820], 'Heerdt': [910, 941], 'P.M.': [911, 942], 'Jehle': [912], 'R.': [913, 1026, 1527, 1717, 4247, 4708, 5015, 5063], 'DiMauro': [914, 947], 'Blanck': [916, 949], 'T.J.': [917, 950], 'Deficiency': [918], 'tetralinoleoyl-cardiolipin': [920], 'syndrome..Ann.': [923], '2002;': [925, 1002, 1050, 1551, 1741, 4271, 4732], '51:': [926], '634-637Crossref': [927], '10Schlame': [933], 'Kelley': [935], 'Feigenbaum': [937], 'Schieble': [943], 'T.': [944, 5001, 5003, 5007, 5009], 'Phospholipid': [951], 'abnormalities': [952, 3941], 'syndrome..J.': [957, 2036, 2604], 'Am.': [958], 'Coll.': [959], 'Cardiol.': [960], '2003;': [961, 1116, 1632], '42:': [962], '1994-1999Crossref': [963], '(158)': [966], '11Valianpour': [969], 'Overmars': [975, 1014, 1515, 1705, 4235, 4696], 'H.': [976, 1015, 1516, 1706, 4236, 4697], 'van': [977], 'Gennip': [978, 1019, 1520, 1710, 4240, 4701], 'A.H.': [979, 1020, 1521, 1711, 4241, 4702], 'Quantitative': [980], 'compositional': [982], 'study': [983, 1044, 1545, 1735, 4265, 4726], 'platelets': [987], 'electrospray': [989, 3237], 'ionization': [990, 3238], 'mass': [991, 3174, 3230, 3372, 4690], 'spectrometry:': [992], 'application': [993], 'identification': [996], 'patients..Clin.': [1000], 'Chem.': [1001, 1115, 1631], '48:': [1003], '1390-1397Crossref': [1004], '(103)': [1007], '12Valianpour': [1010], 'Santer': [1025, 1526, 1716, 4246, 4707], 'Becker': [1027, 1528, 1718, 4248, 4709], 'K.': [1028, 1459, 1529, 1719, 2108, 2512, 4249, 4710], 'Cardiolipin': [1031, 1377, 1532, 1601, 1722, 4252, 4713], 'deficiency': [1032, 1072, 1533, 1723, 4253, 4714], 'syndrome,': [1040, 1541, 1731, 4261, 4722, 5086], '302060):': [1042, 1543, 1733, 4263, 4724], 'cultured': [1046, 1547, 1737, 3708, 3730, 4267, 4378, 4392, 4403, 4728], 'fibroblasts..J.': [1048, 1549, 1739, 4269, 4730], '141:': [1051, 1552, 1742, 4272, 4733], '729-733Abstract': [1052, 1553, 1743, 4273, 4734], '(89)': [1060, 1561, 1751, 4281, 4742], 'Transformed': [1063], 'yeast': [1064, 5079], 'disrupted': [1067], 'shows': [1070, 1158, 2419, 2427, 2716, 2724, 3493, 3549], 'class': [1079], 'phosholipids': [1081], 'related': [1082], '(13Vaz': [1085], 'Houtkooper': [1087], 'R.H.': [1088], 'Only': [1095], 'one': [1096, 2880], 'splice': [1097], 'variant': [1098], 'human': [1101, 1134, 5076], 'encodes': [1104], 'functional': [1106], 'protein': [1107, 3029, 3033, 3040, 3064, 3435], 'role': [1110, 1215], 'metabolism..J.': [1113], '278:': [1117, 1633], '43089-43094Abstract': [1118], 'However,': [1129, 1804], 'after': [1130, 1568, 3022], 'transformation': [1131], 'tafazzin,': [1135], 'both': [1138], 'normalized.': [1142], 'confirms': [1144], 'concept': [1146], 'CL.': [1155], 'Figure': [1156, 1177, 3491, 3753, 3827, 3901], '1': [1157, 2213, 2914, 2991, 3270], 'structures': [1160, 1166], 'MLCL.Fig.': [1164], '1.Representative': [1165], '(A)': [1168], '(B)': [1172], '(MLCL).View': [1174], 'Large': [1175, 3751, 3825, 3899], 'Image': [1176, 3752, 3826, 3900], 'ViewerDownload': [1178, 3754, 3828, 3902], 'Hi-res': [1179, 3755, 3829, 3903], 'image': [1180, 3756, 3830, 3904], 'Download': [1181, 3757, 3831, 3905], '(PPT)': [1182, 3906], 'almost': [1185], 'exclusively': [1186], 'inner': [1190, 5080], 'membrane': [1192, 5082], 'made': [1195], 'phosphatidylglycerol.': [1197], 'required': [1200], 'maintaining': [1202], 'structure': [1204], 'some': [1206, 4626], 'thus': [1211], 'plays': [1212], 'important': [1214], 'oxidative': [1217, 2238, 2256, 2435, 2732], 'phosphorylation': [1218, 2436, 2733], 'functions': [1223], '14Ma': [1290], 'Taylor': [1292, 1824, 2940, 4330, 4753, 4822], 'W.A.': [1293, 1617], 'Dolinsky': [1294], 'V.W.': [1295], 'Hatch': [1296, 1375, 1599, 1618], 'G.M.': [1297, 1376, 1600, 1619], 'Acylation': [1298], 'rat': [1302, 1655], 'heart..J.': [1303], 'Lipid': [1304, 1382, 1606, 1849, 2965, 4355, 4778, 4847], '40:': [1307], '1837-1845Abstract': [1308], '15Sharpley': [1317], 'M.S.': [1318], 'Shannon': [1319], 'Draghi': [1321], 'Hirst': [1323], 'Interactions': [1325], 'between': [1326, 1482, 3464, 3589], 'phospholipids': [1327], 'NADH:ubiquinone': [1329], 'oxidoreductase': [1330], '(complex': [1331], 'I)': [1332], 'bovine': [1334, 1360, 2863], 'mitochondria..Biochemistry.': [1335], '2006;': [1336, 1365, 1384, 1608, 5032], '45:': [1337, 1366, 1385, 1609, 2127, 2531], '241-248Crossref': [1338], '(166)': [1341, 5037], '16Sedlak': [1344], 'Panda': [1346], 'Dale': [1348], 'M.P.': [1349], 'Weintraub': [1350], 'S.T.': [1351], 'Robinson': [1352], 'N.C.': [1353], 'Photolabeling': [1354], 'binding': [1357], 'subunits': [1358], 'within': [1359], 'heart': [1361], 'cytochrome': [1362], 'C': [1363, 2226, 3452, 3467, 3696, 3985], 'oxidase..Biochemistry.': [1364], '746-754Crossref': [1367], '(49)': [1370], '17Hauff': [1373], 'K.D.': [1374, 1598], 'Syndrome..Prog.': [1381, 1605], '91-101Crossref': [1386, 1610], '(123)': [1389, 1613], 'As': [1392], 'shown': [1393, 1868, 2210, 3631], 'Fig.': [1395, 3547, 3633, 3987, 4024, 4617], '1A,': [1396], 'four': [1399, 3644], 'fatty': [1400, 1414, 1573], 'acyl': [1401, 1444, 1477], 'side': [1402, 1416, 1575], 'chains': [1403, 1576], 'negatively': [1406], 'charged': [1407], 'phosphate': [1408], 'groups.': [1409, 3782, 3811, 3856, 3885], 'usually': [1411, 4431], 'C18': [1413], 'chains,': [1417], '80%': [1419], 'these': [1421, 1802, 1975], 'linoleic': [1424, 1500], '(C18:2)': [1426], '(18Schlame': [1427], 'Brody': [1429], 'Hostetler': [1431], 'K.Y.': [1432], 'Mitochondrial': [1433], 'diverse': [1436], 'eukaryotes.': [1437], 'Comparison': [1438], 'biosynthetic': [1440], 'reactions': [1441], 'molecular': [1443, 4161], 'species..Eur.': [1445], 'Biochem.': [1447, 1489, 3068], '1993;': [1448, 2126, 2530], '212:': [1449], '727-735Crossref': [1450], '(148)': [1453], '19Schlame': [1456], 'Beyer': [1458], 'Hayer-Hartl': [1460], 'Klingenberg': [1462], 'Molecular': [1464, 4123], 'species': [1465, 1587, 3280, 3386, 3416, 3500, 3512, 3538, 3555, 3583, 3602, 3706, 3728, 4538, 4544, 4558], 'relation': [1469], 'Is': [1474], 'there': [1475], 'specificity': [1478], 'interaction': [1481], 'ADP/ATP': [1486], 'carrier?.Eur.': [1487], '199:': [1491], '459-466Crossref': [1492], '(59)': [1495], 'Incorporation': [1498], 'into': [1502, 2221, 3172], 'reduced': [1507], '(12Valianpour': [1511, 1701, 4231, 4692], 'It': [1564], 'hypothesized': [1566], 'synthesis': [1569], 'CL,': [1571, 3336], 'remodeled': [1578], 'deacylation-reacylation': [1581], 'cycle': [1582, 3017], 'obtain': [1584], 'different': [1585, 1680, 2075, 2189, 2253, 2432, 2646, 2729, 3498, 3780, 3810, 3854, 3884, 3940, 4019, 4889], 'involves': [1591], 'formation': [1593, 1650], 'intermediate': [1595], '(17Hauff': [1597], '20Taylor': [1616], 'Purification': [1620], 'characterization': [1622], 'pig': [1627], 'liver': [1628, 1656, 2335, 2355], 'mitochondria..J.': [1629], '12716-12721Abstract': [1634], '(70)': [1642], '21Schlame': [1645], 'Rustow': [1647], 'Lysocardiolipin': [1649], 'reacylation': [1652], 'isolated': [1654], 'mitochondria..Biochem.': [1657], '1990;': [1659], '272:': [1660], '589-595Crossref': [1661], '(104)': [1664], 'Definitive': [1667], 'diagnosis': [1668, 4124, 4162], 'genetic': [1672, 4890, 5028], 'testing': [1673], 'demanding,': [1675], 'because': [1676, 1684, 4138, 4599, 4876], 'most': [1677, 3408, 3413, 4419, 4541], 'private': [1681], 'size': [1687, 4141], 'gene.': [1691, 4981], 'Previously,': [1692], 'it': [1693, 1865, 4429, 4802, 4953], 'show': [1756, 4468, 4864], 'used': [1766, 1812, 3036, 3133, 3233, 3300, 3396, 3470, 3605, 4411, 4676, 4943], 'method': [1770], 'Elevated': [1773], 'were': [1777, 1806, 1969, 2157, 2219, 2227, 2247, 2761, 2768, 2792, 2853, 2895, 2924, 2988, 3000, 3142, 3227, 3246, 3250, 3351, 3374, 3395, 3439, 3539, 3594, 3603, 4005, 4319, 4384, 4400, 4559, 4640], 'heart,': [1782, 4374], 'lymphocytes,': [1783], 'lymphoblasts': [1785, 4038, 4061, 4379, 4417, 4512], 'level': [1792, 3641], 'good': [1798], 'not': [1807, 1844, 1867, 2318, 2329, 2456, 2665, 2753, 2960, 3979, 4079, 4177, 4203, 4350, 4563, 4653, 4773, 4842], 'detected': [1808], 'commonly': [1811], 'purposes': [1815], '(22Valianpour': [1816, 2932, 4322, 4814], 'Mitsakos': [1818, 2934, 4324, 4747, 4816], 'V.': [1819, 2935, 4325, 4748, 4817], 'Schlemmer': [1820, 2936, 4326, 4749, 4818], 'Ekert': [1826, 2942, 4332, 4755, 4824], 'Thorburn': [1828, 2944, 4334, 4757, 4826], 'D.R.': [1829, 2945, 4335, 4758, 4827, 5059], 'Munnich': [1830, 2946, 4336, 4759, 4828], 'al.Monolysocardiolipins': [1837, 2953, 4343, 4766, 4835], 'accumulate': [1838, 2954, 4344, 4767, 4836], 'do': [1843, 2959, 4349, 4772, 4841], 'lead': [1845, 2961, 4351, 4774, 4843], 'enhanced': [1847, 2963, 4353, 4776, 4845], 'apoptosis..J.': [1848, 2964, 4354, 4777, 4846], '2005;': [1851, 2967, 4357, 4780, 4849, 5096], '46:': [1852, 2968, 4358, 4781, 4850], '1182-1195Abstract': [1853, 2969, 4359, 4782, 4851], '(114)': [1861, 2977, 4367, 4790, 4859], 'Also,': [1864, 4153], 'indeed': [1872, 4870], 'now': [1879], 'describe': [1880], 'simultaneous': [1882], 'measurement': [1883, 4285, 4482], 'use': [1892], 'cell': [1914, 1957, 2217, 2248, 2836, 3628], 'lines': [1915, 1958, 2218, 2249, 3629], 'see': [1929, 3908], 'unique': [1936], 'Furthermore,': [1939], 'we': [1940, 3918, 4504, 4522, 4639, 4675, 4794, 4863], 'new': [1943, 2712, 3334, 3489], 'study,': [1955], 'fibroblast': [1956, 2216, 3650, 4918], 'five': [1960], 'typical': [1964], 'features': [1968, 2114, 2518, 3930, 4885, 4963, 5049], 'used.': [1970], 'Mutations': [1971, 2664], 'three': [1973], 'described': [1980, 2159, 2927, 4284, 5044], '23Gedeon': [2012], 'Wilson': [2014, 2061, 2097, 2175, 2501, 2582, 2632], 'M.J.': [2015, 2098, 2502, 2583], 'Colley': [2016, 2584], 'A.C.': [2017, 2585], 'Silence': [2018, 2586], 'D.O.': [2019, 2110, 2514, 2587], 'Mulley': [2020, 2103, 2507, 2588], 'J.C.': [2021, 2104, 2508, 2589], 'X': [2022, 2590], 'linked': [2023, 2591], 'infantile': [2025, 2076, 2190, 2452, 2593, 2647, 2749], 'maps': [2027, 2595], 'possibly': [2032, 2600], 'allelic': [2033, 2601], '1995;': [2039, 2607], '32:': [2040, 2608], '383-388Crossref': [2041, 2609], '(50)': [2044, 2612], "24D'Adamo": [2047], 'Fassone': [2049, 2163, 2620], 'Bione': [2055, 2169, 2626], 'Haan': [2063, 2177, 2634], 'Orstavik': [2065, 2179, 2636], 'K.H.': [2066, 2180, 2637], 'al.The': [2068, 2182, 2639], 'G4.5': [2071, 2185, 2642], 'cardiomyopathies..Am.': [2078, 2192, 2649], 'Hum.': [2080, 2194, 2651], '61:': [2083, 2197, 2654], '862-867Abstract': [2084, 2198, 2655], '(207)': [2090, 2204, 2661], '25Ades': [2093], 'L.C.': [2094, 2498], 'Latham': [2099, 2503], 'Partington': [2101, 2505], 'M.W.': [2102, 2506], 'Nelson': [2105, 2509], 'Lui': [2107, 2511], 'Sillence': [2109, 2513], 'syndrome:': [2112, 2516], 'confirmation': [2116, 2520], 'localisation': [2119, 2523], 'distal': [2121, 2525], 'Xq28..Am.': [2122, 2526], '327-334Crossref': [2128, 2532], '(98)': [2131, 2535], 'had': [2139, 3926, 4095, 4110], 'pathogenic': [2141], 'mutations.': [2142, 4152], 'Genomic': [2143], 'DNA': [2144], 'preparation,': [2145], 'amplification,': [2146], 'direct': [2148], 'sequencing': [2149], "(24D'Adamo": [2161, 2618], 'Patient': [2207, 4093, 4108], 'data': [2208, 2260, 3620, 4466], 'Table': [2212, 2267, 4121, 4182], '.': [2214, 3635], 'Control': [2215], 'divided': [2220, 3418], 'groups:': [2223], 'controls': [2228, 3695, 4879], '(n': [2229, 2244], '=': [2230, 2245], '8)': [2231], 'known': [2232, 4906], 'no': [2235, 2341, 2351, 2360, 2373, 2383, 2672, 4909], 'defect': [2236, 4910], 'phosphorylation,': [2239], 'D': [2243, 2263, 3469, 3973], '14)': [2246], 'deficiencies': [2254, 2433, 2730], 'phosphorylation.': [2257], 'More': [2258], 'detailed': [2259], 'about': [2261, 3643, 4668], 'listed': [2265], '1.TABLE': [2268], '1.Patient': [2269], 'detailsPatientDiagnosisPresenting': [2270], 'AgeMutation3MGCBiochemical/Clinical': [2271], 'Findings910158': [2272], 'aGW': [2273], '(6).BTHS4': [2275], 'MonthsTAZ': [2276, 2296, 2321, 2332], 'c.527-1': [2277], 'G>AYesShort': [2278], 'stature,': [2279, 2298], 'cardiomyopathy910394': [2282], 'bIV-19': [2283], '(25)': [2285], 'same': [2287, 2539, 3544, 3721, 4581], 'mutation': [2288, 2342, 2352, 2361, 2374, 2384, 2540, 2673], 'cousin': [2291, 2543], 'OAT': [2293, 2545], '(6).BTHS15': [2295], 'c.868insTYesShort': [2297], 'weakness,': [2301, 2325, 2365, 2390, 3961], 'cardiomyopathy0010379': [2303], 'cV.1': [2304], '(23)': [2306], 'MH': [2308, 2616], '(24).BTHSBirthTAZ': [2310], 'c.919delC?Dilated': [2311], 'cardiomyopathy,': [2312, 2363, 2396, 3956], 'died': [2313], '6': [2315], 'weeks910135': [2316], 'dMutations': [2317, 2328], 'previously.BTHS4': [2320], 'c.655C>T': [2322], '(R123X)YesFTT,': [2323], 'cardiomyopathy0030008': [2327], 'previously.BTHS<12': [2331], 'c.988-2': [2333, 4113], 'A>C?Cardiomyopathy930132COI': [2334], 'specific30': [2336], 'MonthseTAZ': [2337, 2379], 'sequenced': [2339, 2349, 2358, 2371, 2381, 2670], 'found.YesDevelopmental': [2343], 'regression,': [2344], 'movement': [2345], 'disorder,': [2346], 'FTT930160COIBirtheTAZ': [2347], 'found.YesMitochondrial': [2353, 2362], 'cardiomyopathy910590COI': [2354], 'specificBirtheTAZ': [2356], 'lactate920052COI,': [2367], 'II1': [2368], 'MontheTAZ': [2369], 'found.YesPrimary': [2375], 'lactic': [2376], 'acidosis,': [2377], 'FTT840136RRF6': [2378], 'found.,fReported': [2385], '(29).YesMitochondrial': [2387], 'encephalopathy,': [2388], 'FTT,': [2391, 2446, 2743], 'cardiomyopathy0010441CO': [2392], 'specificBirthNDYesDilated': [2395], 'FTT930227RRFBirthNDYesMitochondrial': [2397], 'encephalopathy920421COIBirthNDUFS6NoLIMD,': [2398], 'lactate980457COI6': [2400], 'MonthsMTND6?Leigh': [2401], 'Syndrome0000382COIBirthNDNoLIMD,': [2402], 'lactate950332COI6': [2404], 'WeeksMTND3NoLeigh': [2405], 'Syndrome990105COI,': [2406], 'IV?NDNoLeigh': [2407], 'Syndrome0040012COIV6': [2408], 'MonthsNDNoLeigh': [2409], 'Syndrome,': [2410], 'FTT950301COIV14': [2411], 'MonthsSURF1': [2412], 'hom': [2413], 'exon': [2414], '4': [2415], 'delNoLeigh': [2416], 'SyndromeTop': [2417], 'panel': [2418, 2426, 2715, 2723], 'bottom': [2425, 2722], 'D).': [2438, 2735, 3944], '3MGC,': [2439, 2736], 'aciduria;': [2441, 2738], 'CO,': [2442, 2739], 'complex;': [2445, 2742], 'thrive;': [2449, 2746], 'LIMD,': [2450, 2747], 'lethal': [2451, 2748], 'disease;': [2454, 2751], 'ND,': [2455, 2752], 'determined;': [2457, 2754], 'RRF,': [2458, 2755], 'ragged': [2459, 2756], 'red': [2460, 2757], 'fibers.a': [2461], 'GW': [2462], 'Scholar).b': [2494], 'IV-19': [2495], '(25Ades': [2497], 'Scholar).c': [2577], 'V.1': [2578], '(23Gedeon': [2580], 'Scholar).d': [2663], 'previously.e': [2667], 'found.f': [2674], 'Reported': [2675], '(29Haan': [2677], 'Scholem': [2679], 'R.D.': [2680], 'Pitt': [2681], 'Wraith': [2683], 'J.E.': [2684], 'Brown': [2685], 'G.K.': [2686], 'Episodes': [2687], 'severe': [2689], 'metabolic': [2690], 'acidosis': [2691], 'patient': [2694, 3529, 3572, 4609, 4936, 5136], 'aciduria..Eur.': [2697], '1987;': [2700], '146:': [2701], '484-488Crossref': [2702], '(11)': [2705], 'Open': [2708, 3330, 3485], 'table': [2709, 3331, 3486], 'tab': [2713, 3335, 3490], 'Top': [2714], 'fibers.': [2758], 'All': [2759, 3224], 'solutions': [2760], 'analytical': [2763, 2775], 'quality.': [2764], 'Ethanol': [2765], 'chloroform': [2767], 'Merck': [2770, 2794], '(Melbourne,': [2771, 2848], 'Australia),': [2772], 'HPLC': [2776, 3108, 3136, 3182, 4679], 'LiChrospher': [2777], 'Si': [2778], '60': [2779], 'column': [2780, 3109, 3116, 4680], '(2': [2781], '×': [2782, 2887], '250': [2783], 'mm': [2784], 'μm': [2787], 'particle': [2788], 'size)': [2789], 'ammonia': [2791], '(Darmstadt,': [2795], 'Germany).': [2796], 'Methanol': [2797], 'VWR': [2800], 'International': [2801], '(Poole,': [2802], 'England).': [2803], '(C14:0)4-CL': [2805, 3314, 3748], 'internal': [2806, 3425, 3749], 'standard': [2807, 2824, 3426, 3794, 3868], 'purchased': [2809], 'Avanti': [2811], 'Polar': [2812], 'Lipids': [2813, 2923], '(Alabaster,': [2814], 'AL),': [2815], 'Sigma': [2817], '(St.': [2818], 'Louis,': [2819], 'MO)': [2820], 'supplied': [2821, 2833], '(C18:2)4-CL': [2823], 'butylated': [2827, 3095], 'hydroxytoluene': [2828, 3096], '(BHT).': [2829], 'JRH': [2830], '(Lenex,': [2831], 'KS)': [2832], 'us': [2834], 'culture': [2837], 'medium,': [2838], 'Oxoid': [2839], '(Hampshire,': [2840], 'England)': [2841], 'phosphate-buffered': [2843], 'saline': [2844], '(PBS),': [2845], 'Thermo': [2847], 'Australia)': [2849], 'trypsin.': [2851], 'Fibroblasts': [2852], 'grown': [2854], "Dulbecco's": [2856], 'modified': [2857], "Eagle's": [2858], 'medium': [2859], '10%': [2861, 4684], 'fetal': [2862], 'serum,': [2864], '18': [2865], 'mmol/l': [2866], 'HEPES,': [2867], '50': [2868], 'μmol/l': [2869], 'uridine,': [2870], '1%': [2872], 'penicillin/streptomycin': [2873], 'incubated': [2875], '37°C.': [2877], 'For': [2878], 'harvesting,': [2879], '175': [2881, 3683], 'cm2': [2882], 'flask': [2883], 'cells': [2885, 2894], '(∼5': [2886], '106': [2888], 'cells)': [2889], 'trypsinized,': [2891], 'centrifuged': [2896], 'min': [2899], '600': [2901], 'g.': [2902], 'pellet': [2904], 'washed': [2906], 'once': [2907, 2912], '10': [2909, 3012], 'ml': [2910, 2915, 2992], 'PBS': [2917], 'then': [2919], 'stored': [2920], '−70°C.': [2922], 'extracted': [2925], 'except': [2980], 'minor': [2982], 'modifications,': [2983], 'follows.': [2985], 'Fibroblast': [2986], 'pellets': [2987], 'resuspended': [2989], 'water': [2994], 'kept': [2996], 'on': [2997, 3719], 'ice.': [2998], 'Samples': [2999], 'sonicated': [3001], 'Branson': [3004], 'B-30': [3005], 'sonifier': [3006], 'microtip': [3009], 'twice': [3010], 's': [3013, 3271, 3289], '30%': [3015], 'duty': [3016], 'power': [3019], 'setting': [3020], '3,': [3021], '30': [3024, 3102], 'μl': [3025, 3088, 3103], 'saved': [3027], 'measurement.': [3030], 'bicinchoninic': [3032, 3066], 'assay': [3034, 4294], 'measure': [3038, 3398, 4435, 4452, 4569, 4643], 'concentration': [3041], '(26Smith': [3042], 'P.K.': [3043], 'Krohn': [3044], 'Hermanson': [3046], 'G.T.': [3047], 'Mallia': [3048], 'Gartner': [3050], 'F.H.': [3051], 'Provenzano': [3052], 'M.D.': [3053], 'Fujimoto': [3054], 'E.K.': [3055], 'Goeke': [3056], 'N.M.': [3057], 'Olson': [3058], 'Klenk': [3060], 'D.C.': [3061], 'acid..Anal.': [3067], '1985;': [3069], '150:': [3070], '76-85Crossref': [3071], '(18647)': [3074], 'After': [3077], 'extraction,': [3078, 4632], 'residue': [3080], 'containing': [3081], 'lipids': [3083], 'dissolved': [3085], '200': [3087], 'chloroform-methanol-water': [3090], '(50:45:5;': [3091], 'v/v/v)': [3092], '+': [3093, 3155, 3163], '0.01%': [3094], 'ethanol.': [3098], 'Of': [3099], 'extract,': [3101], 'introduced': [3105, 3171, 4666], 'onto': [3106, 4677], 'Waters': [3112, 3123], '2777C': [3113], 'autosampler.': [3114], 'maintained': [3118], 'room': [3120], 'temperature.': [3121], '1525': [3124], 'μ': [3125], 'binary': [3126], 'pump': [3127], 'built': [3129], 'degasser': [3131], 'system.': [3137], 'separated': [3143], 'interfering': [3145], 'compounds': [3146], 'linear': [3149], 'gradient': [3150, 3191], 'buffers': [3152], '(chloroform': [3154], '0.0025%': [3156, 3164], 'NH3)': [3157], 'B': [3159, 3198, 3205, 3216], '[water-methanol': [3160], '(1:9;': [3161], 'v/v)': [3162], 'NH3],': [3165], 'eluent': [3168], 'directly': [3170], 'spectrometer': [3175, 3231, 4691], '(Waters': [3176], 'Micromass': [3177], 'Quattro': [3178], 'Micro': [3179], 'API).': [3180], 'flow': [3183], 'set': [3185], '0.3': [3187], 'ml/min,': [3188], 'follows:': [3194], '0–0.1': [3195], 'min,': [3196, 3203, 3210, 3214, 3221, 3369], '0%': [3197, 3218, 3222], '20%': [3200, 3204, 4669], 'B;': [3201, 3208, 3212, 3219], '0.1–5': [3202], '100%': [3207, 3211, 3215], '5–8': [3209], '8–8.1': [3213], '8.1–15': [3220], 'gradients': [3226], 'linear.': [3228], 'mode,': [3239], 'double-charged': [3241], 'ions': [3245, 3249, 3350], 'measured.': [3247], 'Four': [3248], 'monitored': [3251, 3349, 3541], '(Table': [3252, 3387], '2).': [3253], 'followed': [3256], 'scans': [3258], 'ratio,': [3261, 3326, 3342, 3739], '(m/z−)': [3265, 3743], '550': [3266], '625': [3268], 'cone': [3274, 3292], 'voltage': [3275, 3293], '40': [3277, 3295], 'm/z−': [3283, 3515, 3558, 3595, 4536, 4551, 4555], '700': [3284], '750': [3286], '0.5': [3288], 'species.TABLE': [3298], '2.Ions': [3299], 'quantify': [3302], 'speciesIonDwell': [3306], 'TimeCone': [3307], 'voltagesm/z−': [3308], '582.6': [3309, 4537, 4556], '(C16:0)/(C18:1)2-MLCL0.230m/z−': [3310], '595.6': [3311, 4552], '(C18:1)3-MLCL0.130m/z−': [3312], '619.7': [3313, 3744], '(Internal': [3315], 'Standard)0.140m/z−': [3316], '725.8': [3317, 3596], '(C18:1)2': [3318], '/(C18:2)2': [3319], '-CL0.240CL,': [3320], 'cardiolipin;': [3321, 3337], 'MLCL,': [3322, 3338], 'monolysocardiolipin;': [3323, 3339], 'm/z−,': [3324, 3340], 'mode.': [3329, 3345], 'Chromatograms': [3346], 'integrated': [3352], 'order': [3354], 'quantitate': [3356], 'species.': [3360], 'eluted': [3364], '3.8': [3366], '3.9': [3368], 'respectively.': [3370, 3599], 'Scanned': [3371], 'spectra': [3373, 3495, 3703, 3716, 3725], 'examined': [3376], 'confirm': [3378], 'presence': [3380], '3).': [3388], 'Masslynx': [3389], 'software': [3390, 3393], 'Quantify': [3392], '(Waters)': [3394], 'peak': [3400, 3736], 'areas.': [3401], 'Next,': [3402], 'surface': [3404, 3421], 'area': [3405, 3422], 'abundant': [3409], '(IS)': [3427], 'peak,': [3428], 'expressed': [3432], 'relative': [3433], 'concentration.': [3436], 'P': [3437, 4012], 'values': [3438, 4013], 'calculated': [3440, 4014], 'MLCL/CL,': [3442], '(MLCL/IS)/protein,': [3443, 3795, 3869], '(CL/IS)/protein': [3445], '(BTHS': [3447], 'versus': [3449, 3697, 4516, 4532], 'D)': [3454, 4894], 'one-tail': [3457], 'distribution,': [3458, 3473], 'equal': [3459, 3474], 'variance': [3460, 3475], 'Student': [3461, 3476], 't-test.': [3462], 'Comparisons': [3463], 'groups': [3466, 4020], 'two-tail': [3472], 't-test.TABLE': [3477], '3.Ions': [3478], 'representing': [3479], 'speciesm/z−Major': [3483], 'Species595.6(C18:1)3-MLCL582.6(C16:0)/(C18:1)2-MLCL581.6(C16:1)/(C18:1)2-MLCL568.6(C16:0)2/(C18:1)-MLCL569.6(C16:0)2/(C18:0)-MLCL712.8(C16:0)/(C18:1)/(C18:2)2-CL724.6(C18:1)/(C18:2)3-CL725.8(C18:1)2/(C18:2)2-CL726.8(C18:1)3/(C18:2)-CL727.8(C18:1)4-CL737.6(C18:2)/(C18:1)2/(C20:4)-CL': [3484], '2A': [3492], 'patient.': [3507], 'clustered': [3513, 3556], 'around': [3514, 3557, 4157, 4315], '712.8,': [3516], '725.8,': [3517], '737.6': [3519], 'substantially': [3521, 4604], 'lower': [3522, 3646], 'samples,': [3545], '2B': [3548], '569.6,': [3559], '582.6,': [3560, 3598], '595.6,': [3561], '607.6': [3563], 'significantly': [3565, 3981, 4473], 'greatest': [3587], 'difference': [3588], 'samples': [3593, 5137], 'These': [3600], 'calculate': [3607, 4585], 'ratios.': [3615], '3A': [3634], 'mean': [3637, 3658, 3673, 3787, 3861, 4049], '(m/z−': [3639, 3662, 3675, 3768, 3772, 3842, 3846, 4053, 4072], '725.8)': [3640, 3769, 3843], 'times': [3645, 3666, 3684, 4057, 4076, 4514, 4530], 'However': [3656], '582.6)': [3663, 3773, 3847, 4054], '45': [3665], 'higher': [3667, 3685, 4058, 4077, 4515, 4531], 'Thus': [3671], '582.6/725.8)': [3676, 4073], '(0.03–0.12': [3693], '5.4–13.8': [3698], 'BTHS).Fig.': [3700], '2.A:': [3701], 'Mass': [3702, 3724], 'displayed': [3718], 'scale.': [3722], 'B:': [3723, 3801, 3875], 'corresponds': [3745], 'standard.View': [3750], '(PPT)Fig.': [3758, 3832], '3.A:': [3759, 3833], 'semiquantitive': [3761, 3835], 'representation': [3762, 3836], 'bars': [3784, 3791, 3798, 3858, 3865, 3872], 'represent': [3785, 3792, 3799, 3859, 3866, 3873], '±': [3788, 3862], 'range.': [3789, 3863], 'Dark-gray': [3790, 3864], 'MLCL/internal': [3793, 3867], 'light-gray': [3797, 3871], '(CL/IS)/protein.': [3800, 3874], 'individual': [3806, 3880], 'horizontal': [3813, 3887], 'bar': [3814, 3888], 'represents': [3815, 3889], 'mean.': [3817, 3891], 'Note': [3818, 3892], 'y-axis': [3821, 3895], 'log-scale.View': [3824, 3898], 'To': [3907, 4565], 'BTHS,': [3917, 4198], 'overlapping': [3931], 'had,': [3937], 'fact,': [3939], '(control': [3942, 4892], 'included': [3947], 'acid,': [3954], 'thrive,': [3959], 'enzyme': [3965], 'defects.': [3966], '0.02–0.06': [3976], 'did': [3978], 'differ': [3980], '(see': [3986, 4120, 4181, 4616], '3B).': [3988, 4618], '95%': [3990], 'confidence': [3991], 'intervals': [3992], 'C,': [3998], '0.00–0.13,': [4006], '0.02–0.06,': [4007], '1.54–14.94,': [4009], 'respectively,': [4010], 'comparison': [4016], 'depicted': [4022], '3A,': [4025], '(three': [4039], 'controls)': [4044], '115': [4056], 'lymphoblasts,': [4066, 4549], '815': [4075], '(data': [4078, 4562], 'shown).': [4080, 4564], '910135': [4094], 'c.655': [4098], 'C>T': [4099], 'mutation,': [4100, 4115], 'predicting': [4101, 4116], 'stop': [4103], 'codon': [4104, 4106], '123.': [4107], '0030008': [4109], 'A>C': [4114], 'splicing': [4118], 'abnormality': [4119], '1).': [4122, 4183], 'sequence': [4128], 'time': [4136], 'consuming': [4137], 'its': [4140], '(10': [4142], 'kb,': [4143], '11': [4144], 'exons)': [4145], 'lack': [4148], 'common': [4150, 5051], 'relatively': [4154, 4924], 'few': [4155], 'laboratories': [4156, 4314], 'world': [4159], 'offer': [4160], 'samples.': [4165], 'Measuring': [4166], 'useful,': [4170], 'activities': [4188], 'enzymes': [4192], 'provide': [4194], 'supporting': [4195], 'evidence': [4196, 5026], 'very': [4204, 4388, 4447], 'specific.': [4205], 'Therefore,': [4206], 'rapid': [4208], 'reliable': [4210], 'needed': [4214], 'so': [4215], 'appropriate': [4217], 'care': [4219], 'administered': [4222], 'prior': [4223], 'confirmatory': [4225], 'analysis.': [4227], 'spectrometry,': [4304], 'technique': [4306], 'available': [4309, 4935], 'many': [4311], 'genetics': [4313], 'world.': [4317], 'only': [4386, 4667, 4683], 'detectable': [4401], 'reasons.': [4407], 'First,': [4408], 'widely': [4413], 'Epstein-Barr': [4415], 'virus-transformed': [4416], 'centers.': [4421], 'Second,': [4422], 'diagnosing': [4424], 'inborn': 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