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Article

On the phenotypic spectrum of serine biosynthesis defects.

Journal of inherited metabolic disease - 1 May 2016

El-Hattab Ayman W, Shaheen Ranad, Hertecant Jozef, Galadari Hassan I, Albaqawi Badi S, Nabil Amira, Alkuraya Fowzan S

Abstract excerpt

L-serine is a non-essential amino acid that is de novo synthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its role in protein synthesis, L-serine is a precursor of a number of important compounds. Serine biosynthesis defects result from deficiencies in PGDH, PSAT, or PSP and have a broad phenotypic spectrum ranging...

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Source

Identifiers

PMID: 26960553
DOI: 10.1007/s10545-016-9921-5

Genes

PHGDH
PSAT1
PSPH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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