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Infantile hypophosphatasia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Infantile hypophosphatasia" returned 0 free, full-text review articles. First 0 results:
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
Last Updated: Jan 16, 2017

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 ...

Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA.
Last Updated: Nov 16, 2017

Subcutaneous asfotase alfa (Strensiqâ„¢), a first-in-class bone-targeted human recombinant tissue-nonspecific alkaline phosphatase (TNSALP) replacement therapy, is approved in the USA for the treatment of patients with perinatal/infantile- or juvenile-onset hypophosphatasia (HPP). ...

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.
Last Updated: Nov 21, 2013

To determine the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP) defect underlying transiently reversible and variably lethal infantile hypophosphatasia (HPP) in a kindred and to characterize HPP prevalence in black people.

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Infantile hypophosphatasia" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Infantile hypophosphatasia" returned 12 free, full-text research articles. First few results:
Recovery of bone mineralization and quality during asfotase alfa treatment in an adult patient with infantile-onset hypophosphatasia.
Last Updated: Sep 14, 2020

Hypophosphatasia (HPP) is a hereditary musculoskeletal disorder characterized by low serum alkaline phosphatase (ALP) activity leading to poor bone mineralization. On a micro-morphological level, this may not only be reflected by an enrichment of osteoid but also a degradation of ...

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
Last Updated: Apr 15, 2020

To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.

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