Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report [PDF]
Journal of Medical Case Reports, 2010 Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding.
Sharma Subodh, Mahal Tania, Shah Gauri
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Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II [PDF]
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu +4 more
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MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS [PDF]
Вопросы современной педиатрии, 2014 Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya +5 more
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Salivary Metabolites in Patients with Mucopolysaccharidosis [PDF]
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2023 Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods:The participants were asked to refrain from eating and drinking for one hour before sampling, performed between ...
Rafaela de Oliveira Torres +5 more
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Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) [PDF]
Molecular Genetics and Metabolism Reports, 2017 There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer +4 more
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Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2018 Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological ...
Anneliese L. Barth MD, PhD +1 more
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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
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A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II [PDF]
Molecular Therapy, 2018 Kohtaro Minami +2 more
exaly +2 more sources
Mucopolysachharidosis-II: A Rare Case Report
Nepal Journal of Dermatology, Venereology & Leprology, 2020 Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
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Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial [PDF]
Molecular Therapy, 2019 Yuji Sato +2 more
exaly +2 more sources