Zobrazeno 1 - 10
of 232
pro vyhledávání: '"Alglucerase"'
What is Gaucher disease? Gaucher disease is a rare, inherited genetic condition. People with Gaucher disease have two non-working copies of a gene called GBA1, which contains the instructions for producing an enzyme called beta-glucosidase. Beta-gluc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a96da1d82631fd047c68fa0a71b6c5a
Autor:
Elisa A. P. Sobreira, Paula Bruniera
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Vol 30, Iss 3, Pp 193-201 (2008)
A doença de Gaucher tipo 1 é a doença de depósito lisossômico mais freqüente. De herança autossômica recessiva, é caracterizada pela deficiência da atividade da enzima glicocerebrosidase e o acúmulo patológico de seu substrato, a glicosil
Externí odkaz:
https://doaj.org/article/23ed67cd95434d7594dfcf4e63a35a62
Autor:
Gundula Staatz, Christoph Düber, K. Laudemann, Jörg Reinke, André Lollert, Eugen Mengel, M Brixius-Huth, Larissa Moos, Julia B. Hennermann, C Hoffmann
Publikováno v:
Klinische Pädiatrie. 231:52-59
We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement the
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet Journal of Rare Diseases
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Orphanet Journal of Rare Diseases
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Funder: Sanofi Genzyme; doi: http://dx.doi.org/10.13039/100013995
BACKGROUND: Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated.
BACKGROUND: Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b8172d7df14a783de36d1e7700313d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Joel Charrow, José Simon Camelo, Pramod K. Mistry, Monica R. McClain, Nadia Belmatoug, Neal J. Weinreb
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Background Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in
Autor:
Diego Fernandez-Sasso, Elena Lukina, Heather Lau, Bruno Bembi, Patrick Deegan, Ida Vanessa Doederlein Schwartz, Nadia Belmatoug, Zoya Panahloo, Pilar Giraldo, Ari Zimran, Ozlem Goker-Alpan, Deborah Elstein
Publikováno v:
American Journal of Hematology
The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long‐term effectivenes
Autor:
Joel Charrow, Manisha Balwani, Hans C. Andersson, Thomas A. Burrow, Barry E. Rosenbloom, Neal J. Weinreb, Edwin H. Kolodny, Aneal Khan, Priya S. Kishnani, Julie L. Batista, C. Ronald Scott, Pramod K. Mistry, Paige Kaplan
Publikováno v:
American Journal of Hematology
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approve
Autor:
Mary Anne Patterson, Dominick Amato
Publikováno v:
Journal of Case Reports in Medicine. 8
Background: Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by a deficiency of glucocerebrosidase, and is characterised by haematological, visceral and bone manifestations that vary widely in terms of severity and age a
Publikováno v:
Core Evidence, Vol. 11 (2016) pp. 37-47
Core Evidence
Core Evidence
Introduction Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serving as model for numerous other lysosomal diseases. Alglucerase was the first glucocerebrosidase purified from placental extracts, and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6407eb1c48449cf76320380f119fadc
https://archive-ouverte.unige.ch/unige:89801
https://archive-ouverte.unige.ch/unige:89801