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Article

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

American journal of human genetics - 1 Dec 2000

Klomp L W, de Koning T J, Malingré H E, van Beurden E A, Brink M, Opdam F L, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The B T, van den Berg I E, Berger R

Abstract excerpt

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients fro...

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Identifiers

PMID: 11055895
DOI: 10.1086/316886
PMCID: PMC1287916

Genes

PHGDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11055895-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.PMID 11055895Read ↗

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