Results 41 to 50 of about 8,162 (165)
Clinical presentation of mucopolysaccharidosis type II (Hunter′s syndrome)
Annals of Medical and Health Sciences Research, 2012 We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such ...
Chinawa, JM +5 more
openaire +4 more sources
Effect of Leukocyte Transfusion in a Child with Type II Mucopolysaccharidosis [PDF]
Proceedings of the National Academy of Sciences, 1971 Treatment of a child affected by type II mucopolysaccharidosis (Hunter's syndrome) with leukocyte transfusions produced dramatic biochemical and clinical changes. The biochemical changes, consisting of greatly increased urinary excretion of glycosaminoglycans and their products of degradation, were transient.
A G, Knudson +2 more
openaire +2 more sources
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham +6 more
wiley +1 more source
Лечащий ВрачBackground. Currently, in Russia, intravenous enzyme replacement therapy is used for the treatment of mucopolysaccharidosis type II. In recent months, enzyme replacement therapy administered via the cerebral ventricles (intracerebroventricular ...
Larisa I. Minaycheva +2 more
doaj +1 more source
MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS
Вопросы современной педиатрии, 2014 Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya +5 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Alaa Bella +11 more
wiley +1 more source
Clinical utility gene card for: Mucopolysaccharidosis type II [PDF]
European Journal of Human Genetics, 2011 Authors have received research grants, honoraria for lectures at educational meetings, travel grants, and consultancy fees from Shire HGT.
Beck, Michael +2 more
openaire +3 more sources
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 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
Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source