Mevalonate kinase deficiency: Evidence for a phenotypic continuum

Neurology

Volumn 62, Issue 6, 2004, Pages 994-997

  Simon, A ^a   Kremer, H P H ^a   Wevers, R A ^a   Scheffer, H ^a   De Jong, J G ^a   Van Der Meer, J W M ^a   Drenth, J P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYPERIMMUNE GLOBULIN; HYPERIMMUNE GLOBULIN D; MEVALONATE KINASE; MEVALONIC ACID; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ACIDURIA; ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL FEATURE; DEATH; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FEVER; GENE MUTATION; HUMAN; HYPERIMMUNOGLOBULINEMIA; MALE; MEVALONATE KINASE DEFICIENCY; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECURRENT DISEASE;

EID: 1842457730     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000115390.33405.F7     Document Type: Article

References (10)

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