3-Phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

Developmental Medicine and Child Neurology

Volumn 42, Issue 9, 2000, Pages 629-633

  Pineda, M ^a,e   Vilaseca, M A ^a   Artuch, R ^a   Santos, S ^a   Garcia Gonzalez M M ^b   Sau, I ^b   Aracil, A ^a   Van Schaftingen, E ^c   Jaeken, J ^d  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL DE FIGUERES   (Spain)

^c Institute of Cellular Pathology   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GLYCERIC ACID; GLYCINE; OXIDOREDUCTASE; SERINE; VIGABATRIN;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXCITABILITY; EYE MOVEMENT; FAILURE TO THRIVE; FEMALE; HUMAN; HYPOTROPHY; INFANT; MICROCEPHALY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PSYCHOMOTOR DISORDER; SEIZURE; WEST SYNDROME;

BRAIN; CARBOHYDRATE DEHYDROGENASES; ELECTROENCEPHALOGRAPHY; FAILURE TO THRIVE; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MOTOR SKILLS DISORDERS; PHOSPHOGLYCERATE DEHYDROGENASE; SEIZURES; SERINE; SPASMS, INFANTILE; TREATMENT OUTCOME;

EID: 0033834892     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162200001171     Document Type: Article

References (6)

1. The international review of child neurology
2. Beneficial effect of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
3. 3-Phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
4. 3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis