Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 513-522

  Enns, Greg M ^a   Barkovich, A J ^b   van Kuilenburg, A B P ^c   Manning, M ^a   Sanger, T ^a   Witt, D R ^d   van Gennip, A H ^c,e  

^a STANFORD UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d Genetics Department   (United States)

^e MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; DIHYDROPYRIMIDINE DEHYDROGENASE; PYRIMIDINE;

ANAMNESIS; ANOXIA; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN DISEASE; BRAIN STEM; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC IMAGING; ENERGY METABOLISM; ENVIRONMENTAL FACTOR; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEMALE; HUMAN; HYPOVENTILATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PATHOGENESIS; PYRIMIDINE METABOLISM; RARE DISEASE; URINALYSIS; WHITE MATTER;

BRAIN; DIHYDROURACIL DEHYDROGENASE (NADP); FATAL OUTCOME; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; THYMINE; URACIL;

EID: 4344560387     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037350.24142.d5     Document Type: Article

References (14)

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