Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

Modern Rheumatology

Volumn 21, Issue 6, 2011, Pages 641-645

  Tahara, Masahiro ^a,b   Sakai, Hidemasa ^c   Nishikomori, Ryuta ^c   Yasumi, Takahiro ^c   Heike, Toshio ^c   Nagata, Ikuo ^d   Inui, Ayano ^e   Fujisawa, Tomoo ^e   Shigematsu, Yosuke ^f   Nishijima, Koji ^a   Kuwakado, Katsuji ^a   Watabe, Shinichi ^a   Kameyama, Junji ^a  

^a KURASHIKI CENTRAL HOSPITAL   (Japan)

^b TSUCHIYA GENERAL HOSPITAL   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d TOTTORI UNIVERSITY   (Japan)

^e SAISEIKAI YOKOHAMASHI TOBU HOSPITAL   (Japan)

^f UNIVERSITY OF FUKUI   (Japan)

Author keywords

Autoimmune hepatitis; Hyper IgD syndrome; Liver biopsy; MVK gene; Neonatal onset chronic hepatitis

Indexed keywords

ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CHILD; CHRONIC HEPATITIS; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; JAPANESE; MEVALONATE KINASE DEFICIENCY; PRIORITY JOURNAL;

CHILD, PRESCHOOL; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HEPATITIS, CHRONIC; HUMANS; HYPERGAMMAGLOBULINEMIA; INFANT; MEVALONATE KINASE DEFICIENCY; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84855715047     PISSN: 14397595     EISSN: 14397609     Source Type: Journal    
DOI: 10.1007/s10165-011-0442-7     Document Type: Article

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