Results 31 to 40 of about 172,598 (105)
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials [PDF]
, 2020 Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Nishizawa, Hitomi +8 more
core +2 more sources
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
Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia
, 1997 Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening ...
Gönül Çatlı +10 more
core +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
Visualization of Mineral‐Targeted Alkaline Phosphatase Binding to Sites of Calcification In Vivo
, 2020 A mineral-targeted form of recombinant tissue-nonspecific alkaline phosphatase (TNAP), asfotase alfa, was approved multinationally as an enzyme replacement therapy for hypophosphatasia in 2015.
Bottini, M +7 more
core +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
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