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Article

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

Journal of clinical research in pediatric endocrinology - 1 Sept 2016

Güzel Nur Banu, Çelmeli Gamze, Manguoğlu Esra, Soyucen Erdoğan, Bircan İffet, Mıhçı Ercan

Abstract excerpt

Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is often missed out or...

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Source

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Identifiers

PMID: 27086862
DOI: 10.4274/jcrpe.2798
PMCID: PMC5096504

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.PMID 27086862Read ↗

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Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.Semantic proximity Read ↗

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.Semantic proximity Read ↗

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