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Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency

MedGen UID:
1843313
•Concept ID:
C5680338
•
Disease or Syndrome
Synonyms: 3-phosphoserine phosphatase deficiency, prenatal form; neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
 
Monarch Initiative: MONDO:0035930
Orphanet: ORPHA583612

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeu-laxova syndrome due to 3-phosphoserine phosphatase deficiency

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Clinical prediction guides

Biochemical and cellular studies of three human 3-phosphoglycerate dehydrogenase variants responsible for pathological reduced L-serine levels.
Murtas G, Zerbini E, Rabattoni V, Motta Z, Caldinelli L, Orlando M, Marchesani F, Campanini B, Sacchi S, Pollegioni L
Biofactors 2024 Jan-Feb;50(1):181-200. Epub 2023 Aug 31 doi: 10.1002/biof.2002. PMID: 37650587

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