Results 21 to 30 of about 29,539 (245)
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
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Serotonin syndrome: a clinical review of current controversies [PDF]
Journal of Integrative Neuroscience, 2020 Serotonin syndrome is a state of increased central and peripheral serotonin (5-hydroxytryptamine) activity. Unless recognized and treated early, serotonin syndrome can lead to seizures, shock and death.
Ursula Werneke +3 more
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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
Frontiers in Molecular Biosciences, 2021 Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme.
Alice Brinckmann Oliveira Netto +15 more
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Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze +6 more
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Педиатрическая фармакология, 2022 Background. Enzyme replacement therapy (ERT) with iduronate-2-sulfatase recombinant forms (idursulfase and idursulfase beta) is effective for the management of mucopolysaccharidosis type II (MPS II).
Julia G. Levina +9 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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