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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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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Study on the disease burden of patients with mucopolysaccharidosis type II in China [PDF]
Orphanet Journal of Rare DiseasesBackground In this study, we investigated the patient population of Mucopolysaccharidosis type II (MPS II) in China, understood the basic situation, prevalence and diagnosis and treatment status of the patients, as well as the economic burden of the ...
Ni Yuan +8 more
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A case report of a patient with mucopolysaccharidosis type II
Revista Médica del Hospital General de México, 2017 Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega +3 more
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Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II
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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Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation. [PDF]
Turk Arch PediatrObjective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Buchinskaia NV +13 more
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MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]
Trakia Journal of Sciences, 2020 Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
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Mucopolysaccharidosis Type II—An Unexpected “3 in 1” Family [PDF]
Pediatrics and Neonatology, 2016 Hsiang-Yu Lin
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Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Вопросы современной педиатрии, 2021 Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze +4 more
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In vivo CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice [PDF]
Genes and DiseasesHanfei Yu +9 more
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