Results 91 to 100 of about 714 (150)

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  

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

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

A Review of Dental Outcomes for Infants and Preschool Children Enrolled into a Clinical Trial of Asfotase Alfa for Early Onset Hypophosphatasia

, 2020
Introduction: Hypophosphatasia (HPP) is a highly variable genetic disease that impedes the development of teeth and bones. HPP is due to mutations in the ALPL gene which encodes the tissue non-specific form of alkaline phosphatase (TNSALP).
Long, Catherine, Rockman-Greenberg, Cheryl, Schroth, Robert J.   +2 more
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Therapie der Hypophosphatasie

, 2020
Zusammenfassung Die Hypophosphatasie (HPP) als Folge einer genetisch bedingt defizienten Aktivität der gewebeunspezifischen alkalischen Phosphatase (TNAP) ist geprägt durch ein ausgesprochen weites Spektrum möglicher Manifestationen, sowohl hinsichtlich ...
Semler, Oliver, Genest, Franca, Kornak, Uwe, Seefried, Lothar, Barvencik, Florian, Hofmann, Christine   +5 more
core   +1 more source

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

, 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

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

, 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

, 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

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 more
doaj   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source