Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles

Tohoku Journal of Experimental Medicine

Volumn 198, Issue 2, 2002, Pages 89-97

  Tanaka, Toju ^a,b   Nagao, Masayoshi ^a,b   Tsutsumi, Hiroyuki ^b  

^a HOKKAIDO MEDICAL CENTER   (Japan)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

Author keywords

Citrin; Hyperammonemia; SLC25A13; Type II citrullinemia

Indexed keywords

ARGINASE; ARGININE; ARGININOSUCCINATE SYNTHASE; BENZOIC ACID; CARRIER PROTEIN; CITRULLINE; ERIODICTYOL 7 O GLUCOSIDE; LYSINE; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOPSY; BIOASSAY; BIOCHEMISTRY; CASE REPORT; CAUSE OF DEATH; CITRULLINEMIA; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; ENZYME ACTIVITY; ENZYME ANALYSIS; FATTY LIVER; GROWTH DISORDER; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; LABORATORY TEST; LIVER; LIVER CELL; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; ONSET AGE; PROTEIN RESTRICTION; SYMPTOMATOLOGY;

ADULT; ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LIVER; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 0036821389     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.198.89     Document Type: Article

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