Results 21 to 30 of about 1,383,473 (237)
Case Reports in Ophthalmology, 2019 We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the retina and abnormalities of the optic nerve.
Ryutaro Yamanishi +2 more
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Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]
Kragujevac Journal of Science, 2023 Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M. +3 more
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Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
Nature Communications, 2017 Hunter syndrome is a lysosomal storage disease caused by mutations in the enzyme iduronate-2-sulfatase (IDS). Here, the authors present the IDS crystal structure and give mechanistic insights into mutations that cause Hunter syndrome.
Mykhaylo Demydchuk +7 more
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Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients
Case Reports in Pediatrics, 2016 Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function ...
Munier A. Nour +4 more
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Current Approaches to the Treatment of Hunter Syndrome
Педиатрическая фармакология, 2018 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked hereditary disorder associated with a deficiency of iduronate2-sulfatase (IDS). IDS deficiency provokes the accumulation of dermatan sulfate and heparan sulfate in different tissues ...
Ekaterina Yu. Zakharova +6 more
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Molecular Genetics and Metabolism Reports, 2014 Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement.
Pravin Patel +10 more
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JIMD Reports, 2021 Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
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Autism Spectrum Disorder in a Child With Hunter Syndrome
Psychiatry and Clinical Psychopharmacology, 2021 Mucopolysaccharidoses (MPS) include a group of chronic and progressive lysosomal storage disorders (LSD) which are characterized by the absence or deficiency of specific lysosomal enzymes.
Hasan Can Ozbay +5 more
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Stem Cell Research, 2019 Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong +8 more
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Hunter Syndrome: Clinical Case of Early Diagnostics
Педиатрическая фармакология, 2020 Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich +4 more
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