Results 21 to 30 of about 161,890 (272)
Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]
Journal of Medical Academics, 2023 Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas +10 more
doaj +1 more source
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
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
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
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
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
Autism, the Integrations of 'Difference' and the Origins of Modern Human Behaviour [PDF]
, 2009 It is proposed here that the archaeological evidence for the emergence of 'modern behaviour' (160,000-40,000 bp) can best be explained as the rise of cognitive variation within populations through social mechanisms for integrating 'different minds ...
Spikins, Penny
core +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