Establishment of a integrative multi-omics expression database CKDdb in the context of chronic kidney disease (CKD) [PDF]
, 2017 Complex human traits such as chronic kidney disease (CKD) are a major health and financial burden in modern societies. Currently, the description of the CKD onset and progression at the molecular level is still not fully understood.
Fernandes, Marco, Husi, Holger
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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Вопросы современной педиатрии, 2020 Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze +6 more
doaj +1 more source
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome. [PDF]
Mol Genet Metab Rep, 2023 Laoharawee K +8 more
europepmc +1 more source
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls [PDF]
, 2012 Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. Affected patients suffer progressive damage to multiple organ systems and early mortality.
A Keilmann +48 more
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Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]
, 2019 Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
Amartino, H. +10 more
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Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report [PDF]
, 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.
A Daniele +11 more
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A marine bacterial enzymatic cascade degrades the algal polysaccharide ulvan [PDF]
, 2019 International ...
Becher, Dörte +18 more
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Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2002 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Daniele, A +5 more
openaire +6 more sources
Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene
Genomics, 1995 Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported.
H, Malmgren +3 more
openaire +2 more sources
Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]
, 2014 Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
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