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449], 'precursor': [389], 'form': [390, 465, 710], '(44': [391], 'kDa).': [392], 'We': [393], 'studied': [394, 429, 510], 'mentally': [396], 'retarded': [397], '9-year-old': [398], 'girl': [399], 'cataracts': [401], 'atypical': [403], 'bone': [404], 'dysplasia.': [405], 'Neurological': [406], 'findings': [407], 'were': [408, 434, 496], 'mild': [409, 871], 'compared': [410, 476], 'classic': [412, 440, 478, 491], 'RCDP.': [413, 441, 479], 'Plasma': [414], 'was': [417, 444], 'normal.': [418], 'Results': [419], 'plasmalogen': [423, 1129], 'synthesis': [424], 'cultured': [431, 1197], 'skin': [432, 1199], 'fibroblasts': [433, 505], 'intermediate': [435], 'between': [436, 487], 'controls': [438], 'only': [446], 'as': [447, 475], '44': [450], 'kDa': [451], 'protein.': [452], 'Taken': [453], 'together': [454], 'these': [455], 'results': [456, 534], 'suggest': [457], 'that': [458, 504, 530], 'we': [459], 'are': [460], 'dealing': [461], 'variant': [464], 'RCDP': [467, 492, 508], 'clinical': [469, 872], 'biochemical': [471, 703, 1089], 'abnormalities': [472, 758, 795], 'much': [473], 'milder': [474], 'In': [480, 1024], 'order': [481], 'establish': [483], 'genetic': [485], 'relationship': [486], 'patient': [489, 520], 'patients': [493, 509, 706], 'carried': [497], 'out.': [498], 'Earlier': [499], 'had': [501], 'already': [502], 'shown': [503], 'from': [506, 518, 535], 'all': [507], 'belong': [511], 'single': [514], 'group.': [516], 'Fibroblasts': [517], 'could': [521], 'also': [522], 'be': [523], 'assigned': [524], 'group': [528], 'suggesting': [529], 'phenotypic': [532], 'variability': [533], 'different': [536], 'mutations': [537], 'within': [538], 'same': [540], 'gene.': [541], '©': [542], 'Wiley-Liss,': [544], 'Inc.': [545], 'References': [546], 'Barr': [547], 'DBD,': [548], 'Kirk': [549], 'JM,': [550, 786, 853, 976, 1006, 1055, 1146, 1215], 'Al': [551], 'Howasi': [552], 'M,': [553, 925, 1100, 1112, 1245], 'RJA,': [555, 578, 631, 663, 691, 728, 751, 927, 974, 1002, 1051, 1075, 1106, 1158, 1183, 1207], 'RBH': [557, 633, 730, 755], '(1993):': [558, 1082, 1187], 'isolated': [563], 'DHAP-AT': [564], 'deficiency.': [565], 'Arch': [566], 'Dis': [567, 646, 765, 849, 877, 946, 1069, 1140, 1179, 1233], 'Child': [568], '68:': [569], '415–417.': [570], 'Brul': [571], 'S,': [572, 623, 772], 'Westerveld': [573], 'A,': [574, 576, 693, 805, 857], 'Strijland': [575, 692], 'Schram': [579], 'AW,': [580], 'Heymans': [581, 660, 721, 744, 999, 1052], 'HSA,': [582, 661, 722, 745, 1000, 1053], 'RBH,': [584, 659, 697, 863, 929, 972, 998, 1047, 1073, 1108, 1164, 1213], 'van': [585, 651, 977, 1009, 1184, 1216], 'den': [586, 978, 1010], 'Bosch': [587, 979, 1011, 1057], 'H,': [588, 859, 895, 1012, 1160], 'Tager': [589, 664, 698, 975, 1005, 1054, 1165, 1214], 'JM': [590, 665, 699, 931, 1166], '(1988):': [591, 793, 981, 1015], 'Genetic': [592, 701], 'heterogeneity': [593, 704], 'cerebro-hepato-renal': [596], '(Zellweger)': [597], 'syndrome': [598, 903], 'other': [600], 'inherited': [601], 'disorders': [602], 'generalized': [605], 'impairment': [606], 'functions:': [609], 'A': [610, 673, 714, 832, 933, 1172, 1226, 1249, 1259], 'study': [611], 'using': [612], 'analysis.': [614], 'J': [615, 643, 683, 740, 762, 800, 822, 846, 874, 912, 943, 962, 992, 1066, 1137, 1176, 1230], 'Clin': [616, 684, 1268], 'Invest': [617, 685], '81:': [618], '1710–1715.': [619], 'Clayton': [620], 'PT,': [621], 'Eckhardt': [622], 'Wilson': [624], 'J,': [625, 784, 1162, 1247], 'Hall': [626, 898], 'CM,': [627], 'Yousuf': [628], 'Y,': [629], '(1994):': [634, 812, 866, 953, 1221], 'Isolated': [635], 'dihydroxyacetonephosphate': [636, 1169], 'acyltransferase': [637, 1170], 'deficiency': [638], 'presenting': [639], 'developmental': [641], 'delay.': [642], 'Inher': [644, 763, 847, 875, 944, 1067, 1138, 1177, 1231], 'Metab': [645, 764, 848, 876, 945, 1139, 1178, 1232], '17:': [647, 878, 1234], '533–540.': [648], 'Heikoop': [649, 688, 1161], 'JC,': [650, 689], 'Roermund': [652, 1185], 'CWT,': [653], 'Just': [654], 'WW,': [655, 776], 'Ofman': [656], 'R,': [657, 695, 1079, 1116], '(1990):': [666, 900, 1250], 'punctata.': [669, 799, 1023, 1153], 'Deficiency': [670], '3-oxoacyl-coenzyme': [672], 'peroxisomes': [676], 'impaired': [678], 'processing': [679], 'enzyme.': [682], '86:': [686], '126–130.': [687], 'Purvis': [694, 1078], '(1992):': [700, 1119, 1167], 'punctata:': [713, 734, 1085], 'study.': [716], 'Hum': [717], 'Genet': [718, 1269], '89:': [719], '439–444.': [720], 'Oorthuys': [723, 746, 1003], 'JWE,': [724, 747, 1004], 'Nelck': [725, 748], 'G,': [726, 749, 770, 968, 1008, 1049], '(1985):': [731, 831], 'Another': [735], 'disorder.': [737, 1175, 1229], 'N': [738], 'Engl': [739], 'Med': [741], '313:': [742], '187.': [743], 'Dingemans': [752], 'KP,': [753], '(1986):': [756], 'chondrodysplasia.': [761], '(1986)': [766], '9:': [767], '329–331.': [768], 'Hoefler': [769, 771], 'Watkins': [773], 'PA,': [774], 'Chen': [775], 'Moser': [777, 791, 1248], 'AB,': [778], 'Baldwin': [779], 'B,': [780, 782, 809], 'McGillivary': [781], 'Charrow': [783], 'Friedman': [785], 'Rutledge': [787], 'L,': [788, 1114], 'Hasimoto': [789], 'T,': [790], 'HW': [792], 'Biochemical': [794], 'Pediatr': [801, 913, 1092], '112:': [802], '726–733.': [803], 'Motley': [804], 'Hettema': [806], 'E,': [807], 'Distel': [808], 'Tabak': [810], 'H': [811, 980], 'Differential': [813], 'protein': [814, 959], 'import': [815], 'deficiencies': [816, 1019], 'human': [818, 1198], 'peroxisome': [819], 'assembly': [820], 'disorders.': [821, 1065], 'Cell': [823], 'Biol': [824, 963], '125:': [825], '755–67.': [826], 'Nelson': [827], 'PV,': [828], 'Carey': [829], 'WF': [830], 'method': [833], 'enrichment': [835], 'hybrid': [837], 'somatic': [838], 'cells:': [839], 'Complementation': [840], 'certain': [843], 'lysosomal': [844], 'enzymopathies.': [845], '8:': [850, 1093], '95–99.': [851], 'Nuoffer': [852], 'Pfammatter': [854], 'JP,': [855], 'Spahr': [856], 'Toplak': [858], 'RJA': [861], 'Wiesmann': [864], 'UN': [865], 'Chondrodysplasia': [867], 'course.': [873], '60–66.': [879], 'Pike': [880], 'MG,': [881], 'Applegarth': [882], 'DA,': [883], 'Dunn': [884], 'HG,': [885], 'Bamforth': [886], 'SJ,': [887], 'Tingle': [888], 'AJ,': [889], 'Wood': [890], 'BJ,': [891], 'Dimmick': [892], 'JE,': [893], 'Harris': [894], 'Cantier': [896], 'JK,': [897], 'JG': [899], 'Congenital': [901], 'rubella': [902], 'associated': [904, 939, 1122], 'calcific': [906], 'epiphyseal': [907], 'stippling': [908], 'dysfunction.': [911, 942], '116:': [914], '88–94.': [915], 'Poll-Thé': [916, 1117], 'BT,': [917], 'Maroteaux': [918], 'P,': [919, 1218], 'Narcy': [920], 'C,': [921, 923, 1104, 1209], 'Quetin': [922], 'Guesnu': [924], 'Saudubray': [930], '(1991):': [932], 'new': [934, 1173, 1227], 'type': [935], '14:': [947], '361–363.': [948], 'Purdue': [949], 'PE,': [950], 'Lazarow': [951], 'PB': [952], 'biogenesis:': [955], 'multiple': [956], 'pathways': [957], 'import:': [960], 'Minireview.': [961], 'Chem': [964], '269:': [965], '30065–30068.': [966], 'Schrakamp': [967, 1007, 1048], 'Schalkwijk': [969], 'CG,': [970], 'Plasmalogen': [982], 'disorders:': [986], 'fatty': [987], 'alcohol': [988], 'versus': [989], 'alkylglycerol': [990], 'precursors.': [991], 'Lipid': [993], 'Res': [994], '29:': [995], '325–334.': [996], 'Beemer': [1013, 1097], 'FA': [1014], 'Multiple': [1016], 'enzyme': [1018], 'DM': [1025], 'Goldberg,': [1026], 'DW': [1027], 'Moss,': [1028], 'E': [1029], 'Schmidt,': [1030], 'FW': [1031], 'Schmidt': [1032], '(eds):': [1033], '"': [1034], 'Advances': [1035], 'Clinical': [1037], 'Enzymology,"': [1038], 'Vol': [1039], '6.': [1040], 'Basel:': [1041], 'S.': [1042], 'Karger,': [1043], 'pp': [1044], '1–9.': [1045], 'VD': [1056], '(1989):': [1058], 'Pre-': [1059], 'perinatal': [1061], 'diagnosis': [1062, 1087], 'Met': [1068], '12:': [1070], '118–134.': [1071], 'Nijenhuis': [1076], 'AA,': [1077], 'Dekker': [1080, 1208], 'C': [1081], 'Prenatal': [1086], 'analyses.': [1090], 'Int': [1091], '45–52.': [1094], 'Smeitink': [1095], 'JAM,': [1096], 'FA,': [1098], 'Espeel': [1099], 'Donckerwolcke': [1101], 'RAMG,': [1102], 'Jakobs': [1103], 'Roels': [1109], 'F,': [1110], 'Duran': [1111], 'Dorland': [1113], 'Berger': [1115], 'BT': [1118], 'Bone': [1120], 'dysplasia': [1121], 'accumulation': [1126], 'deficient': [1128], 'synthesis:': [1130], 'entity': [1133], 'amenable': [1134], 'plasmapheresis.': [1136], '15:': [1141, 1180], '377–380.': [1142], 'Spranger': [1143], 'JW,': [1144], 'Opitz': [1145], 'Bidder': [1147], 'U': [1148], '(1971):': [1149], 'Heterogeneity': [1150], 'Humangenetik': [1154], '11:': [1155], '190–212.': [1156], 'Schumacher': [1159], 'Human': [1168, 1222], 'deficiency:': [1171, 1225], '389–391.': [1181], 'CWT': [1186], 'Studies': [1188], 'on': [1189], 'α-oxidation': [1192], 'rat': [1194], 'Biochim': [1201], 'Biophys': [1202], 'Acta': [1203], '1167:': [1204], '345–350.': [1205], 'Hovarth': [1210], 'VAP,': [1211], 'Laer': [1217], 'Lecoutere': [1219], 'D': [1220], 'alkyldihydroxyace-tonephosphate': [1223], 'synthase': [1224], '315–318.': [1235], 'Wardinsky': [1236], 'TD,': [1237], 'Pagon': [1238], 'RA,': [1239], 'Powell': [1240], 'BR,': [1241], 'McGillivray': [1242], 'BM,': [1243], 'Stephan': [1244], 'Zinana': [1246], 'survival': [1255], 'beyond': [1256], 'one': [1257], 'year:': [1258], 'literature': [1263], 'five': [1265], 'case': [1266], 'reports.': [1267], '38:': [1270], '84–93.': [1271], 'Citing': [1272], 'Literature': [1273], 'Volume62,': [1274], 'Issue215': [1275], '1996Pages': [1277], 'ReferencesRelatedInformation': [1279]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2011017717', 'counts_by_year': [{'year': 2021, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 2}, {'year': 2012, 'cited_by_count': 3}], 'updated_date': '2024-08-15T07:46:17.759069', 'created_date': 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