Results 71 to 80 of about 714 (150)
Hipofosfatasia: manifestaciones clínicas, recomendaciones diagnósticas y opciones terapéuticas
Anales de Pediatría, 2018 Resumen: La hipofosfatasia es una enfermedad ultra-rara del metabolismo mineral óseo causada por un déficit de actividad de la fosfatasa alcalina, debido a la existencia de mutaciones en el gen ALPL.
Gabriel A. Martos-Moreno +3 more
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
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
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]
, 2017 Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization.
Quinkler, Marcus +5 more
core +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
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
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [PDF]
Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP).
Zillikens, M. Carola +5 more
core +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
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