Results 71 to 80 of about 12,127 (209)
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report
Journal of Medical Case Reports, 2010 Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding.
Sharma Subodh, Mahal Tania, Shah Gauri
doaj +1 more source
Lysosomal storage diseases: mucopolysaccharidosis type I and II
Pediatrician (St. Petersburg), 2021 Mucopolysaccharidosis (MPS) are a genetically heterogeneous group of rare monogenic metabolic diseases associated with hereditary insufficiency of lysosomal enzymes involved in the catabolism of glycosaminoglycans, or mucopolysaccharides. The pathogenesis of MPS is due to the accumulation of non-cleaved glycosaminoglycans in lysosomes, which can ...
Victoria N. Gorbunova +1 more
openaire +1 more source
Behavioral Interventions, Volume 41, Issue 2, April 2026.ABSTRACT Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome), a rare lysosomal storage disorder, causes significant communication delays and regression in affected children. The majority of children lack or lose verbal communication by 6 years.
Kimberly A. Schreck +3 more
wiley +1 more source
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]
, 2017 Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I +11 more
core +1 more source
Brain and Behavior, Volume 16, Issue 4, April 2026.Multi‐omics Mendelian randomization reveals causal roles of four autophagy‐related genes (FNBP1, IDUA, C9orf72, USP35) in ALS risk, with FNBP1 and USP35 increasing risk and IDUA and C9orf72 protective, shedding light on autophagy‐mediated mechanisms and offering early evidence of novel therapeutic targets for ALS.
Zheng Jiang +9 more
wiley +1 more source
A case report of a patient with mucopolysaccharidosis type II
Revista Médica del Hospital General de México, 2017 Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega +3 more
doaj +1 more source
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]
, 2014 BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara +12 more
core +1 more source
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
BMC Medical Genetics, 2020 Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua +8 more
doaj +1 more source