American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick +13 more
wiley +1 more source
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]
, 2016 OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD +14 more
core +2 more sources
Development and validation of COMPASS: clinical evidence of orphan medicinal products – an assessment tool [PDF]
, 2013 BACKGROUND: Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of 50 out of 100,000 individuals or less. Orphan medicinal products (OMPs) are intended for the treatment of rare diseases. The assessment of
Bert Aertgeerts +3 more
core +2 more sources
Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis [PDF]
, 2020 Background: In the last 10 years enzyme replacement therapy (ERT) has become an alternative for the treatment of patients with Hunter disease (HD). Nevertheless, the information regarding efficacy and safety is scarce and mainly based on the pivotal ...
Asensio Tomás, Maria Luisa +10 more
core +1 more source
Diagnóstico e Tratamento de Doenças Lisossomais: relatório 2012 [PDF]
, 2013 Relatório anual do Grupo de Trabalho Coordenador do Diagnóstico e Tratamento de Doenças Lisossomais (GTCDTDL), relativo ao ano 2012, do qual se destaca a realização das seguintes atividades: − Discussão e avaliação de 43 casos clínicos relativos a ...
Fortuna, Ana +1 more
core
Trends in orphan drug use and spending among children and adolescents during 2010–2020 in Korea
Frontiers in Pharmacology, 2022 Background: Since 2014 in Korea, the Ministry of Food and Drug Safety has designated orphan drugs (ODs) for the treatment of rare diseases. This study investigated the market share and 20 most frequently prescribed therapeutic subgroups of ODs among ...
Jung Yeon Oh +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2017 Background Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S).
Joseph Muenzer +5 more
doaj +1 more source
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome) [PDF]
, 2015 BACKGROUND: Twenty-eight treatment-naïve mucopolysaccharidosis II patients (16 months–7.5 years) received 0.5 mg/kg idursulfase weekly for one year in NCT00607386.
Ann J Barbier +4 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2020 The efficacy of enzyme replacement therapy (ERT) for lysosomal storage diseases (LSDs) possibly depends on the cellular uptake of recombinant lysosomal enzymes (LEs), and it is known that cation-independent mannose 6-phosphate receptor (CI-M6PR) on the ...
Minori Kanzaki +4 more
doaj +1 more source