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adult-onset type ii citrullinemia (36) 36
analysis (36) 36
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ornithine transcarbamylase deficiency (36) 36
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endocrinology & metabolism (35) 35
infants (35) 35
metabolism (35) 35
mitochondrial proteins - genetics (35) 35
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argininosuccinate synthase - deficiency (34) 34
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membrane transport proteins - genetics (34) 34
ammonia - blood (33) 33
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base sequence (33) 33
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arginine (28) 28
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diagnosis, differential (27) 27
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inborn-errors (26) 26
frequency (25) 25
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abridged index medicus (24) 24
age of onset (24) 24
encephalopathy (24) 24
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messenger-rna (24) 24
organic anion transporters - genetics (24) 24
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Journal of Hepatology, ISSN 0168-8278, 2008, Volume 49, Issue 5, pp. 810 - 820
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2017, Volume 23, Issue 44, pp. 7930 - 7938
Journal Article
Gene, ISSN 0378-1119, 09/2012, Volume 505, Issue 2, pp. 269 - 275
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 05/2017, Volume 486, Issue 3, pp. 613 - 619
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
Stem Cell Research and Therapy, ISSN 1757-6512, 07/2017, Volume 8, Issue 1, pp. 176 - 176
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 122 - 130
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult‐onset type II citrullinemia (CTLN2) and found seven mutations in... 
NICCD | liver disease | mutation detection | adult‐onset type II citrullinemia | CTLN2 | neonatal intrahepatic cholestasis caused by citrin deficiency | citrin deficiency | multiple DNA diagnosis | Japanese | SLC25A13 | Mutation detection | Multiple DNA diagnosis | Adult-onset type II citrullinemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Liver disease | Citrin deficiency | ORTHOTOPIC LIVER-TRANSPLANTATION | ARGININOSUCCINATE SYNTHETASE | adult-onset type II citrullinemia | CLASSICAL CITRULLINEMIA | MESSENGER-RNA | GENE | UREA CYCLE | GENETICS & HEREDITY | II CITRULLINEMIA | Cholestasis - genetics | Japan - epidemiology | Citrullinemia - diagnosis | Gene Frequency - genetics | Cholestasis - congenital | Cholestasis - complications | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Citrullinemia - epidemiology | Male | DNA Mutational Analysis - methods | Mitochondrial Proteins | Genetic Testing - methods | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins | Base Sequence | Hepatitis - genetics | Polymerase Chain Reaction | Female | Infant, Newborn | Citrullinemia - genetics | Cholestasis - diagnosis | Calcium-Binding Proteins - deficiency | Genotype | Mutation - genetics | Hepatitis - congenital | Hepatitis - complications | Hepatitis - diagnosis | Polymorphism, Restriction Fragment Length | Membrane Transport Proteins | Age of Onset | Alleles | Codon, Nonsense - genetics | Calcium-Binding Proteins - genetics | Index Medicus
Journal Article
Journal Article