Results 71 to 80 of about 937 (188)
Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Junichi Asano +5 more
wiley +1 more source
JCRPE, 2019 Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown
Bülent Hacıhamdioğlu +5 more
doaj +1 more source
Bone Reports, 2022 Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh +6 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
Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia [PDF]
, 2021 Purpose: The study aimed to define the clinical, biochemical and genetic features of adult patients with osteopenia/osteoporosis and/or bone fragility and low serum alkaline phosphatase (sALP).
C. Verdelli +7 more
core +1 more source
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 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
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
Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia [PDF]
, 2019 Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5\u27-phosphate (PLP), the principal circulating form of vitamin B6, and
Bhatti, M Tariq +7 more
core +1 more source