Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.

Hormone research in paediatrics - 1 Jan 2021

Raimann Adalbert, Haberler Christine, Patsch Janina, Ertl Diana-Alexandra, Sadeghi Kambis, Freilinger Michael, Lang Susanna, Schmook Maria, Plecko Barbara, Haeusler Gabriele

Abstract excerpt

Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations in the biomineralization-associated alkaline phosphatase gene, encoding tissue-nonspecific alkaline phosphatase (TNSALP). Symptoms include skeletal hypomineralization and extra-skeletal manifestations such as pyridoxine (B6)-responsive seizures due to impaired cerebral B6 passage. Since the introduction of enzyme...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Infant
Share to Alkaline Phosphatase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Brain Diseases

Share to Enzyme Replacement Therapy

Share to Hypophosphatasia

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 34673643
DOI: 10.1159/000520341

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.PMID 34673643Read ↗

Hypophosphatasia: Vitamin B6 status of affected children and adults.Semantic proximity Read ↗

Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.Semantic proximity Read ↗

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.Semantic proximity Read ↗

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.Semantic proximity Read ↗

Neurological Symptoms of Hypophosphatasia.Semantic proximity Read ↗

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.Semantic proximity Read ↗

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

Hypophosphatasia.Semantic proximity Read ↗

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutationsSemantic proximity Read ↗

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.Semantic proximity Read ↗

Pediatric hypophosphatasia: avoid diagnosis missteps!Semantic proximity Read ↗

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.