The first Korean case of lysinuric protein intolerance: Presented with short stature and increased somnolence

Journal of Korean Medical Science

Volumn 27, Issue 8, 2012, Pages 961-964

  Ko, Jung Min ^a   Shin, Choong Ho ^a   Yang, Sei Won ^a   Seong, Moon Woo ^a   Park, Sung Sup ^a   Song, Junghan ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

Amino acids, basic; Hyperammonemia; Lysinuric protein intolerance; SLC7A7

Indexed keywords

ANTIFUNGAL AGENT; BENZOIC ACID; CARNITINE; CD98 ANTIGEN; CITRULLINE; SLC7A7 PROTEIN, HUMAN; VITAMIN B COMPLEX;

ARTICLE; ASIAN; CASE REPORT; DIET THERAPY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA SEQUENCE; FEMALE; GENETICS; GROWTH DISORDER; HOMOZYGOTE; HUMAN; HYPERCALCEMIA; KIDNEY CALCIFICATION; METABOLIC DISORDER; MUTATION; PRESCHOOL CHILD; PROTEIN RESTRICTION; SOMNOLENCE; SOUTH KOREA;

AMINO ACID METABOLISM, INBORN ERRORS; ANTIFUNGAL AGENTS; ANTIGENS, CD98 LIGHT CHAINS; ASIAN CONTINENTAL ANCESTRY GROUP; CARNITINE; CHILD, PRESCHOOL; CITRULLINE; DIET, PROTEIN-RESTRICTED; DISORDERS OF EXCESSIVE SOMNOLENCE; FEMALE; GROWTH DISORDERS; HOMOZYGOTE; HUMANS; HYPERCALCEMIA; METABOLIC DISEASES; MUTATION; NEPHROCALCINOSIS; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA; SODIUM BENZOATE; VITAMIN B COMPLEX;

EID: 84866509823     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2012.27.8.961     Document Type: Article

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