Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2845-2849

  Grønborg, Sabine ^a   Krätzner, Ralph ^a   Spiegler, Juliane ^b   Ferdinandusse, Sacha ^c   Wanders, Ronald J A ^c   Waterham, Hans R ^c   Gärtner, Jutta ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

D bifunctional protein deficiency; Leukencephalopathy; Peroxisomes; Polymicrogyria; Very long chain fatty acids

Indexed keywords

D BIFUNCTIONAL PROTEIN; PROTEIN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ARTICLE; CASE REPORT; CEREBELLUM; CHILD; CONTROLLED STUDY; D BIFUNCTIONAL PROTEIN DEFICIENCY; DIAGNOSTIC VALUE; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME ACTIVITY; FATTY ACID BLOOD LEVEL; FRONTAL LOBE; HUMAN; HUMAN CELL; LEUKOENCEPHALOPATHY; MALE; MICROGYRIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PARIETAL LOBE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

17-HYDROXYSTEROID DEHYDROGENASES; BIOLOGICAL MARKERS; CELL LINE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; HYDRO-LYASES; INFANT, NEWBORN; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM DISEASES; PEROXISOMES; PREGNANCY;

EID: 78049244101     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33677     Document Type: Article

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