Results 111 to 120 of about 5,048,722 (239)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2017 Objectives This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect of
Roberto Giugliani +9 more
semanticscholar +1 more source
Expert Opinion on Drug Safety, 2020 Objectives Enzyme replacement therapy with idursulfase has been shown to improve somatic signs and symptoms of mucopolysaccharidosis type II (MPS II). Idursulfase is available in Japan (since 2007), based on the outcome of clinical trials conducted in ...
K. Ueda, Jiro Hokugo
semanticscholar +1 more source
Proteoglycan Research, Volume 4, Issue 2, April 2026.ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana +2 more
wiley +1 more source
Bone metabolism in patients with mucopolysaccharidosis type II
Rheumatology, 2014 Objectives : To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology.
Zbigniew Żuber +4 more
doaj +1 more source
European Journal of Haematology, Volume 116, Issue 4, Page 336-349, April 2026.ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot +3 more
wiley +1 more source
Relationship of Sleep to Pulmonary Function in Mucopolysaccharidosis II
The Journal of Pediatrics, 2013 To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidosis (MPS) II (Hunter syndrome).
William I, Wooten +3 more
openaire +3 more sources
European Journal of Haematology, Volume 116, Issue 4, Page 443-449, April 2026.ABSTRACT This retrospective study evaluates the efficacy and safety of donor lymphocyte infusion (DLI) after allogeneic hematopoietic stem cell transplantation (HSCT) in children. We describe the long‐term use of preemptive, prophylactic, and therapeutic DLI with a gradual dose increase in half‐log increments.
Dinah Walther +7 more
wiley +1 more source
A case of hunter syndrome and Alder-Reilly anomaly
Journal of Applied Hematology, 2017 A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS).
Nour AlMozain, Nasir A Bakshi
doaj +1 more source
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]
, 2015 Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke) +8 more
core +1 more source