Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family

Pediatrics International

Volumn 48, Issue 4, 2006, Pages 416-419

  Ikezumi, Yohei ^a   Kabuki, Naoyuki ^a   Hayakawa, Hiroshi ^a   Matsui, Toshiharu ^b   Gunji, Tetsuki ^b   Uchiyama, Makoto ^a  

^a NIIGATA UNIVERSITY MEDICAL AND DENTAL HOSPITAL   (Japan)

^b Nagaoka Chuo General Hospital   (Japan)

Author keywords

ARC syndrome; Cholestasis; Renal tubular dysfunction

Indexed keywords

BICARBONATE; BILIRUBIN; C REACTIVE PROTEIN; MEDIUM CHAIN TRIACYLGLYCEROL; PENTETIC ACID; RADIOISOTOPE; TECHNETIUM 99M; URSODEOXYCHOLIC ACID; VITAMIN D; VITAMIN K GROUP;

ARTHROGRYPOSIS; ARTHROGRYPOSIS RENAL TUBULAR DYSFUNCTION CHOLESTASIS SYNDROME; ARTICLE; CASE REPORT; CHOLESTASIS; CLINICAL FEATURE; DISEASE COURSE; DRUG UPTAKE; ECHOCARDIOGRAPHY; FEMALE; FLEXION CONTRACTURE; GLOMERULUS FILTRATION RATE; HEPATOMEGALY; HUMAN; INFANT; JAPAN; KIDNEY TUBULE DISORDER; KNEE; LABORATORY TEST; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ACIDOSIS, RENAL TUBULAR; ARTHROGRYPOSIS; CHOLESTASIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; JAPAN; MALE; SIBLINGS; SYNDROME;

EID: 33746441558     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2006.02230.x     Document Type: Article

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