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Article

Positive maternal serum triple test screening in severe early onset hypophosphatasia.

Prenatal diagnosis - 1 Jul 2004

Witters Ingrid, Moerman Philippe, Mornet Etienne, Fryns Jean-Pierre

Abstract excerpt

OBJECTIVES: Hypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue-non-specific alkaline phosphatase (TNS-ALP) gene. To date 128 mutations are described in the TNS-ALP gene located on the short arm of chromosome 1. The clinical presentation of hypophosphatasia is variable ranging from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15300736
DOI: 10.1002/pd.859

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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