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155, 180], 'rare': [50], 'inborn': [51], 'error': [52], 'metabolism': [54], 'inherited': [55], 'as': [56, 151, 153], 'autosomal': [58], 'recessive': [59], 'trait': [60], 'leading': [61], 'to': [62, 100], 'hyperammonemia.': [63], 'Using': [64], 'homology': [65], 'search': [66], 'based': [67], 'on': [68, 80, 168], 'genetic': [69], 'information': [70], 'ascomycetes,': [72], 'we': [73], 'identified': [74, 129], 'human': [76], 'gene': [77, 135], 'chromosome': [81], '17q21.31.': [82], 'There': [83], 'distinct': [86], 'pattern': [87], 'organospecific': [89], 'expression': [90], 'transcripts': [92], 'small': [95], 'intestine,': [96], 'similar': [99], 'other': [102], 'mitochondrially': [103], 'located': [104], 'enzymes': [105], 'cycle.': [109], 'encoded': [111], '534': [112], 'amino': [113, 123], 'acid': [114, 124], 'polypeptide': [115], 'has': [116], 'consensus': [118], 'sequence': [119], '49': [122], 'mitochondrial': [125], 'leader': [126], 'peptide.': [127], 'We': [128], 'private': [130], 'mutations': [131, 165], 'patients': [137, 192], 'with': [138, 157, 185], 'severe': [139], 'early': [140], 'onset': [141, 159], 'clinical': [143], 'symptoms': [144], '(IVS3-2A>T,': [145], 'c.1306_1307insT,': [146], 'c.971G>A/W324X,': [147], 'c.1289T>C/L430P,': [148], 'c.1299G>C/E433S,': [149], 'c.1450T>C/W484R),': [150], 'well': [152], 'case': [156], 'late': [158], '(c.835G>A/A279P).': [160], 'Four': [161], 'out': [162], 'seven': [164], 'were': [166], 'detected': [167], 'exon': [169], '6.': [170], 'This': [171], 'first': [174], 'report': [175], 'mutation': [177], 'analysis': [178, 190], 'series': [181], 'families': [183, 199], 'affected': [184, 198], 'NAGS.': [188], 'Molecular': [189], 'reliable': [194], 'antenatal': [195], 'diagnostics': [196], 'are': [200], 'now': [201], 'feasible.': [202]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1979628862', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 4}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 7}, {'year': 2015, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 2}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-09-19T12:30:53.261152', 'created_date': '2016-06-24'}