Results 41 to 50 of about 1,478,183 (195)

A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar   +4 more
doaj   +1 more source

Intracranial findings of Hunter syndrome [PDF]

open access: yesPediatric Radiology, 2010
A 13-year-old boy presented with mental retardation, progressive hearing loss and coarsened facial features. Brain MRI demonstrated punctate and oblong CSF-equivalent cystic areas within the corpus callosum, basal ganglia and periventricular white matter (Figs. 1 and 2), with surrounding hyperintensity on T2-W and FLAIR images (Fig. 1).
Ramesh S, Iyer, Paritosh C, Khanna
openaire   +2 more sources

OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN WITH TYPE II MUCOPOLYSACCHARIDOSIS (HUNTER SYNDROME)

open access: yesПедиатрическая фармакология, 2013
17 children received cardiorespiratory monitoring in order to evaluate spread and dynamics of changes in the primary obstructive sleep apnea syndrome (OSAS) parameters at type II mucopolysaccharidosis.
N. D. Vashakmadze   +8 more
doaj   +1 more source

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

open access: yesDiagnostics, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki   +5 more
doaj   +1 more source

Hunter Syndrome

open access: yesBritish Journal of Medicine and Medical Research, 2016
The mini review of Hunter syndrome aimed to explore etiology, incidence, clinical manifestations, diagnosis and treatment by reviewing recent literatures. Hunter syndrome (mucopolysaccharidosis II: MPS II) is a genetic lysosomal storage disease which is rare, It's caused by deficiency of the enzyme iduronate-2-sulfatase (I2S). Initial manifestations of
Alkhalil, Munther K   +2 more
openaire   +2 more sources

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

open access: yesMolecular 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
doaj   +1 more source

MUCOPOLYSACCHARIDOSIS TYPE II

open access: yesПедиатрическая фармакология, 2011
Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of
N.D. Vashakmadze   +6 more
doaj   +2 more sources

Stomatological Problems in Child with the II Type Mucopolysaccharidosis

open access: yesČeská Stomatologie a Praktické Zubní Lékařství, 2013
Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
doaj   +1 more source

Hunter Library

open access: yes, 2013
Named for H.T. Hunter, the Hunter Library was constructed in 1953.
unknown;, unknown
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H. T. Hunter to Professor Madison, June 13, 1942

open access: yes, 2014
In this letter Hiram Tyram Hunter (1883-1947) thanks Robert Lee Madison (1867–1954) for the gift of an academic doctor's gown. Hunter (1883-1947) served as president of Cullowhee Normal and Industrial School through its transition to Western Carolina ...
Hunter, H. T. (Hiram Tyram), 1883-1947
core  

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