Results 91 to 100 of about 937 (188)

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, Julien Heidt, Ruben G. W. Quek, Laura Walsh   +3 more
wiley   +1 more source

Infantile Hypophosphatasia: Clinical Case

Вопросы современной педиатрии, 2020
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive ...
Tatyana V. Gabrusskaya, Yana V. Panutina, Maria O. Revnova, Mikhail M. Kostik   +3 more
doaj   +1 more source

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

BMC Musculoskeletal Disorders, 2019
Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP).
Wolfgang Högler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani   +9 more
doaj   +1 more source

ENPP1 Inhibition: A Promising Oral Therapy for Later-Onset Hypophosphatasia [PDF]

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNAP), an enzyme encoded by the ALPL gene.
MacRae, Vicky
core   +1 more source

Natural history of perinatal and infantile hypophosphatasia: A retrospective study [PDF]

, 2019
Objective: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.
Argente, Jesús, Beck, Michael, DiMeglio, Linda, Fujita, Kenji P., Hofmann, Christine, Leung, Edward, Liese, Johannes, Martos-Moreno, Gabriel, Moseley, Scott, Reeves, Amy, Simm, Peter, Simmons, Jill, Steelman, Joel, Steiner, Robert D., Superti-Furga, Andrea, Whyte, Michael P., Wilcox, William R., Wuh-Liang Hwu, Paul   +17 more
core   +1 more source

HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW

Остеопороз и остеопатии, 2015
Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova, E Yu Zakharova, Yu V Buklemishev, U R Khakimov, S V Lapkina   +4 more
doaj   +1 more source

Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial. [PDF]

, 2019
BACKGROUND: Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme replacement therapy.
Balasubramaniam, Baumgartner-Sigl, Bayley, Chodirker, Collmann, Deitz, Fleisch, Folio, Jansen, Kishnani, Kitaoka, Kozlowski, Kuczmarski, Leung, Nakamura-Utsunomiya, O'Neill, Otero, Rodriguez, Russell, Silver, Thacher, Weiss, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte   +29 more
core   +1 more source

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients [PDF]

, 2019
Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP).
Akiyama, Tomoyuki, Imamura, Mototaka, Ito, Tetsuya, Kurahashi, Hiroki, Nakajima, Yoko, Sano, Yoshimi, Shinkai, Yasuko, Yokoi, Katsuyuki, Yoshikawa, Tetsushi   +8 more
core   +1 more source

Hypophosphatasia : diagnosis and clinical signs - a dental surgeon perspective [PDF]

, 2016
Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) result in varying degrees of enzyme deficiency.
Bloch-Zupan, A. (Agnès)
core   +2 more sources

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia [PDF]

, 2019
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed ...
Arumilli, Meharji, Hundi, Sruthi, Hytönen, Marjo K., Karkamo, Veera, Kyöstilä, Kaisa, Lappalainen, Anu K., Lohi, Hannes, Syrjä, Pernilla, Viitmaa, Ranno   +8 more
core   +2 more sources