Results 81 to 90 of about 948 (174)
Update on the management of hypophosphatasia
Therapeutic Advances in Musculoskeletal Disease, 2019 Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified.
V. Choida, J. S. Bubbear
doaj +1 more source
Clinical and Translational Science, Volume 18, Issue 4, April 2025.ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed +9 more
wiley +1 more source
Clinical features of low serum alkaline phosphatase levels in children: A retrospective study
Pediatrics International, Volume 67, Issue 1, January/December 2025.Abstract Background Serum alkaline phosphatase (ALP), a biomarker of bone and liver metabolism, is often elevated in children; however, the lower reference limit is rarely considered. Hypophosphatasia (HPP) is characterized by low ALP levels and impaired mineralization of bone and teeth.
Mami Kurihara +4 more
wiley +1 more source
Hypophosphatasia and neuropathic pain:Related to vitamin B6 metabolism? [PDF]
Hypophosphatasia (HPP) is caused by pathogenic variant(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Diminished enzyme activity results in elevated serum concentrations of pyridoxal 5′-phosphate (PLP), the main ...
Van Velsen, Evert F.S. +2 more
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Hypophosphastasia (HPP): pathogenesis and current treatment options [PDF]
, 2017 Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease characterized by the abnormal development of bones and teeth, due to defective mineralization (1,2).
LaSalle, Luisa Ellis
core
Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia
Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.Background Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by mutation in the tissue nonspecific isoenzyme of alkaline phosphatase (ALP) (TNSALP). Perinatal HPP is the most severe type of HPP, primarily characterized by respiratory distress.
Doua Khalid Al Homyani +5 more
wiley +1 more source
Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
JIMD Reports, 2022 Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha +4 more
doaj +1 more source
Enzyme replacement therapy for hypophosphatasia—The current paradigm
Clinical Endocrinology, Volume 101, Issue 6, Page 593-601, December 2024.Abstract Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant‐negative mutations in the gene that encodes TNSALP.
Aaron Schindeler +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.Abstract Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL variants from the observational, prospective, multinational Global HPP Registry.
Priya S. Kishnani +10 more
wiley +1 more source