Results 51 to 60 of about 11,933,855 (190)

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, Adimora, GN, Obu, HA, Tagbo, B, Ujunwa, F, Onubogu, I   +5 more
openaire   +4 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Lysosomal Dysfunction Is Associated With Intervertebral Disc Degeneration: Multiomics and Machine Learning Identify Molecular Subtypes and Hub Genes

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
Intervertebral disc degeneration (IVDD) is linked to lysosomal dysfunction, impaired autophagic degradation, and cellular senescence. Integrating bulk and single‐cell transcriptomics with machine learning, this study identified two lysosome‐related molecular subtypes and four hub genes: HYAL1, MMD, PLD3, and ANK3.
Yang Yang, Hong Li, Yixuan Ou, Yaping Yu, Kaiqiang Sun, Shixing Chen, Chenglong Ji   +6 more
wiley   +1 more source

The role of transferrin receptors in crossing the blood-brain barrier in the treatment of mucopolysaccharidosis

Лечащий Врач
Background. 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, Gulnara N. Seitova, Ekaterina A. Shatokhina   +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, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk   +5 more
doaj   +1 more source

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, N, Di Ferrante, J E, Curtis   +2 more
openaire   +2 more sources

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
J. (Julia) Holdorp, M. E. (Michelle) Kruijshaar, A. A. M. (Audrey) Vollebregt, A. B. (Andre) Rietman, M. R. K. (Marianne) Dijkstra, C. (Carina) Klees, M. (Margreet) Wagenmakers, A. H. P. (Annie) Nguyen, E. (Esmee) Oussoren, A. T. (Ans) van der Ploeg, J. M. P. (Hannerieke) van den Hout   +10 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 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, Wijburg, Frits A., Gal, Andreas   +2 more
openaire   +3 more sources