Results 91 to 100 of about 717 (150)

Pediatric hypophosphatasia: a retrospective single-centre chart review of 50 children [PDF]

, 2020
Die Hypophosphatasie (HPP) ist eine seltene, angeborene Knochen- und Systemerkrankung, welche Patienten allen Alters betrifft. Verursacht wird die Erkrankung durch Mutationen im ALPL-Gen, welches für die gewebeunspezifische Alkalische Phosphatase codiert
Vogt, Marius Lothar
core   +1 more source

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

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

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

Evolução clínica, radiológica e laboratorial de paciente com hipofosfatasia após dois anos de tratamento com asfotase alfa, com estudo genotípico e fenotípico da família [PDF]

, 2019
Hypophosphatasia (HPP) is an autosomal dominant or recessive inborn error of metabolism caused by loss of function mutations within the gene that encodes tissuenonspecific alkaline phosphatase (TNSALP), an enzyme with multiple functions including bone ...
Reis, Fernanda Salles [UNIFESP]
core  

Reliability and Validity of the 6‐Minute Walk Test in Hypophosphatasia [PDF]

, 2019
This investigation evaluated the reliability and validity of the 6-Minute Walk Test (6MWT) in patients with pediatric hypophosphatasia (HPP). Children (aged 6 to 12 years; n = 11), adolescents (13 to 17 years; n = 4), and adults (18 to 65 years; n = 9 ...
Lerma Lara, Sergio, Ioannis C Tomazos, Tomazos, Ioannis C, Phillips, Dawn, Gil L'Italien, Dawn Phillips, Sergio Lerma Lara, Moseley, Scott, L'Italien, Gil, Scott Moseley, Hugo Gomes da Silva, Gomes da Silva, Hugo   +11 more
core   +1 more source

Tratamento de hipofosfatasia com a enzima asfotase alfa, uma revisão da literatura [PDF]

, 2019
Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Farmácia, 2019.A hipofosfatasia, também conhecida como doença de Rathbun, é uma doença genética rara, sem cura, que acomete ...
Shiratori, Vitor Akira Arake
core  

Diagnosesicherung & Therapieeinleitung mit Asfotase Alfa

Der Dokumentationsbogen ist eine Mindestanforderung/Checkliste, die von Vertretern der Ärzteschaft unter Einbezug der Expertise aktiver und ehemaliger Vertreter aus GKV und KV-System erarbeitet wurde. Er soll bei der Darlegung der Verordnungsentscheidung für Asfotase alfa unterstützen.
Lampe, Christina, Maus, Uwe, Schober, Christoph   +2 more
openaire   +1 more source

Current View on Etiopathogenesis, Clinic, and Diagnosis of Hypophosphatasia in Children: Narrative Review and Case Study Description Represented by Stress Fractures

Вопросы современной педиатрии
Hypophosphatasia (HPP) is a monogenic bone disease caused by alkaline phosphatase (ALP) deficiency due to variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNALP).
Mirzonuriddin M. Alimov, Alexandr A. Konstantinov, Nataly O. Grankina, Alexandr V. Trofimov, Oksana L. Kolobova, Mikhail M. Kostik   +5 more
doaj   +1 more source

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source