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

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 2009

Utsch B, Brun-Heath I, Staatz G, Gravou-Apostolatou C, Karle S, Jacobs U, Ludwig M, Zenker M, Dörr H-G, Rascher W, Mornet E, Dötsch J

Abstract excerpt

BACKGROUND: Infantile hypophosphatasia (IH) is an inherited disorder characterized by defective bone mineralization and a deficiency of alkaline phosphatase activity. OBJECTIVE/DESIGN: The aim of the study was to evaluate a new compound heterozygous TNSALP mutation for its residual enzyme activit...

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 Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Heterozygote

Share to Hypophosphatasia

Share to Infant, Newborn

Share to Isoenzymes

Source

Identifiers

PMID: 18523927
DOI: 10.1055/s-2008-1073157

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18523927-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?PMID 18523927Read ↗

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for HypophosphatasiaSemantic proximity Read ↗

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.Semantic proximity Read ↗

[A novel mutation in infant hypophophatasia: a case report].Semantic proximity Read ↗

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestrySemantic proximity Read ↗

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

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.Semantic proximity Read ↗

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.Semantic proximity Read ↗

Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl GeneSemantic proximity Read ↗

Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.Semantic proximity Read ↗

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.Semantic proximity Read ↗

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.Semantic proximity Read ↗

Correlations of genotype and phenotype in hypophosphatasia.Semantic proximity Read ↗

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