Results 101 to 110 of about 6,701 (243)
Asfotase alfa therapy for children with hypophosphatasia [PDF]
, 2016 Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP).
Fujita, Kenji P +13 more
core +3 more sources
Neonatal form of hypophosphatasia. A case report
The Turkish Journal of Pediatrics, 1995 Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities.
G Tekinalp +4 more
doaj
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia [PDF]
, 2009 Background Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL).
Alembik, Yves +6 more
core +5 more sources
Reply to: “Questioning Conclusions and Statements on the German HTA System: A Critical Perspective”
Clinical Pharmacology &Therapeutics, Volume 117, Issue 1, Page 24-24, January 2025.
James Harnett +3 more
wiley +1 more source
Dental Manifestations of Pediatric Bone Disorders [PDF]
, 2017 Purpose of Review Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental–oral manifestations: fibrous dysplasia, Paget’s disease ...
Yepes, Juan F.
core +1 more source
The isolation and identification of phosphoethanolamine from the urine of a case of hypophosphatasia [PDF]
, 1958 D. C. Cusworth
openalex +1 more source
Neurological and Neurosurgical Aspects of Hypophosphatasia
Педиатрическая фармакология, 2018 Hypophosphatasia is a rare hereditary progressive disease caused by a mutation in ALPL gene and characterized by low activity of alkaline phosphatase.
Vadim P. Ivanov +5 more
doaj +1 more source
Hypophosphatasia: A Developmental Anomaly of Alkaline Phosphatase? [PDF]
, 1976 Rafael Gorodischer +3 more
openalex +1 more source
Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options
Anales de Pediatría (English Edition), 2018 Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and tooth mineralization, although extra-skeletal ...
Gabriel Ángel Martos-Moreno +3 more
doaj