Results 21 to 30 of about 1,478,183 (195)
Mental health perspectives of Hunter syndrome: Case reports of two biological siblings
Medical Journal of Dr. D.Y. Patil University, 2016 Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs.
Kabir Garg, Sujita Kumar Kar
doaj +1 more source
In silico profiling of non-synonymous SNPs in IDS gene for early diagnosis of Hunter syndrome
Egyptian Journal of Medical Human Genetics, 2022 Background Single amino acid substitutions in the Iduronate-2-sulfatase enzyme result in destabilization of the protein and cause a genetic disorder called Hunter syndrome.
Adarshan Sivakumar +10 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj
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
doaj +1 more source
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
doaj +1 more source