Citrin deficiency and current treatment concepts

Molecular Genetics and Metabolism

Volumn 100, Issue SUPPL., 2010, Pages

  Saheki, Takeyori ^a   Inoue, Kanako ^a   Tushima, Anmi ^a   Mutoh, Kozo ^b   Kobayashi, Keiko ^c  

^a TOKUSHIMA BUNRI UNIVERSITY   (Japan)

^b SHIMADA MUNICIPAL HOSPITAL   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Adult onset type II citrullinemia (CTLN2); Carbohydrate toxicity; Citrin deficiency; Hyperammonemia; Mitochondrial aspartate glutamate carrier; Neonatal intrahepatic cholestasis (NICCD); SLC25A13; Sodium pyruvate

Indexed keywords

ARGININE; CARBOHYDRATE; PYRUVATE SODIUM;

ARTICLE; CITRIN DEFICIENCY; FOOD AVERSION; FOOD PREFERENCE; HUMAN; HYPERAMMONEMIA; HYPERTRIGLYCERIDEMIA; INBORN ERROR OF METABOLISM; LOW CARBOHYDRATE DIET; NONHUMAN; NUTRITIONAL ASSESSMENT; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DIET; SYMPTOM; TREATMENT INDICATION; TREATMENT OUTCOME; UREA CYCLE;

ANIMALS; CALCIUM-BINDING PROTEINS; CARBOHYDRATES; DEFICIENCY DISEASES; DISEASE MODELS, ANIMAL; FOOD PREFERENCES; HUMANS; HYPERAMMONEMIA; MICE; ORGANIC ANION TRANSPORTERS; UREA;

EID: 77950341710     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.02.014     Document Type: Article

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