Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 181-184

  Tabatabaie, L ^a   Klomp, L W J ^a   Rubio Gozalbo, M E ^b   Spaapen, L J M ^b   Haagen, A A M ^c   Dorland, L ^b   De Koning, T J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c VIECURI MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ETHOSUXIMIDE; ETIRACETAM; SERINE; PHOSPHOGLYCERATE DEHYDROGENASE;

ABSENCE; ADOLESCENT; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DRUG DOSE INCREASE; DRUG RESPONSE; EEG ABNORMALITY; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN CELL; HYPERACTIVITY; INFANT; LOW DRUG DOSE; MALE; PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PRESCHOOL CHILD; SCHOOL CHILD; SKIN FIBROBLAST; SUPPLEMENTATION; WELLBEING; DIFFERENTIAL DIAGNOSIS; MENTAL DEFICIENCY; METABOLIC ENCEPHALOPATHY; MICROCEPHALY; SEIZURE; SIBLING;

ADOLESCENT; BRAIN DISEASES, METABOLIC, INBORN; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; PHOSPHOGLYCERATE DEHYDROGENASE; SEIZURES; SIBLINGS;

EID: 79955821436     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9249-5     Document Type: Article

References (9)

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