Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

Neuropediatrics

Volumn 31, Issue 6, 2000, Pages 287-292

  De Koning, T J ^a   Jaeken, J ^a   Pineda, M ^a   Van Maldergem, L ^a   Poll The, B T ^a   Van der Knaap, M S ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

3 phosphoglycerate dehydrogenase deficiency; Hypomyelination; MRI; Treatment; White matter attenuation

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; AMINO ACID; GLYCINE; SERINE;

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; ARTICLE; CASE REPORT; CHILD; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MICROCEPHALY; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; WHITE MATTER;

AMINO ACIDS; CARBOHYDRATE DEHYDROGENASES; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CHOLINE; DEMYELINATING DISEASES; DISEASE PROGRESSION; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MICROCEPHALY; PHOSPHOGLYCERATE DEHYDROGENASE; SEIZURES; SERINE;

EID: 0034467971     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-12944     Document Type: Article

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