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Volumn 32, Issue 4, 2001, Pages 191-195
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Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: Report on two siblings
a a a a |
Author keywords
3 Phosphoglycerate dehydrogenase deficiency; Amino acids, therapeutic use, adverse effects; Metabolism, inborn errors, therapy; Microcephaly; Serine, therapeutic use; West syndrome
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Indexed keywords
GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE;
GLYCINE;
ISOLEUCINE;
METHIONINE;
ORNITHINE;
SERINE;
AMINO ACID BRAIN LEVEL;
AMINO ACID SYNTHESIS;
AMINO ACID TRANSPORT;
ARTICLE;
CASE REPORT;
CHILD;
DRUG MEGADOSE;
ENZYME DEFICIENCY;
FEMALE;
GASTROESOPHAGEAL REFLUX;
HUMAN;
INTRACTABLE EPILEPSY;
MICROCEPHALY;
MYELIN DEFICIENCY;
PRIORITY JOURNAL;
AMINO ACIDS;
CARBOHYDRATE DEHYDROGENASES;
CEREBROSPINAL FLUID;
CHILD;
CHILD, PRESCHOOL;
DOSE-RESPONSE RELATIONSHIP, DRUG;
FEMALE;
GLYCINE;
HEAD;
HUMANS;
INFANT;
INFANT, NEWBORN;
METABOLISM, INBORN ERRORS;
PHENOTYPE;
PHOSPHOGLYCERATE DEHYDROGENASE;
SERINE;
SPASMS, INFANTILE;
TREATMENT OUTCOME;
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EID: 0034826503
PISSN: 0174304X
EISSN: None
Source Type: Journal
DOI: 10.1055/s-2001-17373 Document Type: Article |
Times cited : (25)
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References (10)
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