Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 408-412

  Hinson, Debra D ^a   Rogers, Zora R ^b   Hoffmann, Georg F ^c   Schachtele, M ^d   Fingerhut, Ralph ^e   Kohlschutter, Alfried ^e   Kelley, Richard I ^f   Gibson, K Michael ^a,g,h  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS AT DALLAS   (United States)

^c Children's Hospital   (Germany)

^d Children's Hospital   (Germany)

^e UNIVERSITY OF HAMBURG   (Germany)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Anemia; Cholesterol; Leukocytosis; Mevalonate kinase; Thrombocytopenia

Indexed keywords

MEVALONATE KINASE; MEVALONIC ACID; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ACIDURIA; ANEMIA; APLASTIC ANEMIA; ARTICLE; CASE REPORT; CHOLESTATIC HEPATITIS; ENZYME DEFICIENCY; EXTRAMEDULLARY HEMATOPOIESIS; FEVER; HEMATOLOGIC DISEASE; HEPATOSPLENOMEGALY; HUMAN; INFANT; LEUKOCYTOSIS; MALE; PETECHIA; PRIORITY JOURNAL; RASH; THROMBOCYTOPENIA;

ANEMIA; CHOLESTASIS, INTRAHEPATIC; CHOLESTEROL; HEMATOLOGIC DISEASES; HEPATOMEGALY; HETEROZYGOTE; HUMANS; HYPERBILIRUBINEMIA; INFANT, NEWBORN; LEUKOCYTOSIS; MALE; METABOLISM, INBORN ERRORS; MEVALONIC ACID; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SPLENOMEGALY; THROMBOCYTOPENIA;

EID: 0031830467     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980806)78:5<408::AID-AJMG3>3.0.CO;2-H     Document Type: Article

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