Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis

European Journal of Pediatrics

Volumn 169, Issue 10, 2010, Pages 1271-1273

  Saito, Takashi ^a   Hayashi, Daisuke ^b   Shibata, Sawako ^b   Jogamoto, Mitsuto ^b   Kamoda, Tomohiro ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b Department of Pediatrics   (Japan)

Author keywords

ATP6V0A4 gene; Distal renal tubular acidosis; Hyperammonemia

Indexed keywords

ANION GAP; ARTICLE; ATP6V0A4 GENE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FAILURE TO THRIVE; GENE; GENE MUTATION; HUMAN; HYPERAMMONEMIA; HYPOKALEMIA; INFANT; JAPANESE; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; MALE; METABOLIC ACIDOSIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; URINE PH; VOMITING;

ACIDOSIS, RENAL TUBULAR; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PROTON-TRANSLOCATING ATPASES;

EID: 77956192103     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1184-9     Document Type: Article

References (10)

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