Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Hinson, D D
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. [electronic resource] - American journal of medical genetics Aug 1998 - 408-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0148-7299
Anemia
Cholestasis, Intrahepatic--genetics
Cholesterol--metabolism
Hematologic Diseases--genetics
Hepatomegaly
Heterozygote
Humans
Hyperbilirubinemia
Infant, Newborn
Leukocytosis
Male
Metabolism, Inborn Errors--genetics
Mevalonic Acid--blood
Phenotype
Phosphotransferases (Alcohol Group Acceptor)--deficiency
Splenomegaly
Thrombocytopenia
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. [electronic resource] - American journal of medical genetics Aug 1998 - 408-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0148-7299
Anemia
Cholestasis, Intrahepatic--genetics
Cholesterol--metabolism
Hematologic Diseases--genetics
Hepatomegaly
Heterozygote
Humans
Hyperbilirubinemia
Infant, Newborn
Leukocytosis
Male
Metabolism, Inborn Errors--genetics
Mevalonic Acid--blood
Phenotype
Phosphotransferases (Alcohol Group Acceptor)--deficiency
Splenomegaly
Thrombocytopenia