Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II) [PDF]
BMC Medical Genomics, 2021 Background This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome ...
Alla Nikolaevna Semyachkina +3 more
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Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review [PDF]
Molecular Genetics and Metabolism Reports, 2022 Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain barrier; Intrathecal ERT ...
Srividya Sreekantam +7 more
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The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2020 In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor ...
J.B. Eisengart +4 more
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Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report [PDF]
Surgical Case Reports, 2019 Background Hunter syndrome is an X-linked disorder caused by a deficit of the lysosomal enzyme iduronate-2-sulfatase and is associated with many disorders. Patients with Hunter syndrome often develop inguinal hernias in early childhood and undergo Potts’
Yoichiro Tada +11 more
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Hunter Syndrome Diagnosed by Otorhinolaryngologist [PDF]
Case Reports in Otolaryngology, 2018 Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births.
Ayako Hashimoto +2 more
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Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome [PDF]
Frontiers in Immunology, 2020 A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing.
Daniel C. Julien +6 more
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Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]
Therapeutic Advances in Rare DiseaseHunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
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The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients [PDF]
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
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Hunter syndrome revisited [PDF]
Romanian Medical Journal, 2020 Hunter syndrome is the type II of mucopolysaccharidose. With impaired glycosaminoglycan catabolism, heparan and dermatan sulfate accumulate in lysosomes. Multiple organ dysfunction is a consequence of this effect.
Dan Cristian Gheorghe +2 more
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Airway Management of Hunter Syndrome: a case series
Bali Journal of Anesthesiology, 2023 Type II mucopolysaccharidoses is an X-linked autosomal recessive disease, causing glycosaminoglycan accumulation, leading to repeated surgeries. Airway substrate deposits present a challenge for anesthesiologists.
Raihanita Zahra +3 more
doaj +1 more source