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

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Annals of clinical and laboratory science - 1 May 2016

Park Eu Gene, Cho Sung Yoon, Lee Jeehun, Kim Jihyun, Cho Heeyeon, Kim Jinsup, Huh Rimm, Ki Chang-Seok, Kim Ok-Hwa, Jin Dong-Kyu

Abstract excerpt

Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity. The prognosis for the infantile form is poor, with approximately 50% of patients dying within the first year of life from respiratory failure. We describe the clinical and biochemical findings as well as the molecular analysis of a Korean boy...

Read the complete abstract on PubMed

Topics

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

Share to Alkaline Phosphatase
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypophosphatasia

Share to Infant

Share to Infant, Newborn

Share to Mutation

Share to Republic of Korea

Source

Identifiers

PMID: 27312557

Genes

ALPL

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.PMID 27312557Read ↗

[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].Semantic proximity Read ↗

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.Semantic proximity Read ↗

[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].Semantic proximity Read ↗

Neonatal hypophosphatasia: a case report of a rare genetic disorder.Semantic proximity Read ↗

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature ReviewSemantic proximity Read ↗

Severe perinatal hypophosphatasia case with a novel mutation.Semantic proximity Read ↗

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

Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.Semantic proximity Read ↗

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.Semantic proximity Read ↗

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

ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.Semantic proximity Read ↗

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.Semantic proximity Read ↗

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