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
core
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II. [PDF]
Mol Genet Metab Rep, 2021 Yamamoto R +6 more
europepmc +1 more source
Molecular Genetics and Metabolism ReportsMucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes.
Yusuke Hattori +5 more
doaj +1 more source
Physical health perspective and mental subnormality of a child with Hunter’s disease [PDF]
Hunter’s disease or mucopolysaccharidosis (MPS II) is a rare X-linked recessive disorder caused by deficiency or malfunctioning of the lysosomal enzyme iduronate-2-sulfatase (IDS), leading to progressive accumulation of glycosaminoglycans in almost all ...
Gupta, Anumodan +3 more
core +1 more source
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 [PDF]
, 2016 core +1 more source
On the Mechanism of the Lysosomal Enzyme Iduronate‐2‐sulfatase. A Multiscale Approach
ChemCatChemAbstractIduronate‐2‐sulfatase (IDS) is a Ca2+‐dependent enzyme belonging to the family of sulfatases that catalyzes the hydrolysis of sulphurylated glycosaminoglycans (GAGs), like dermatan and heparan sulphate. Its deficiency or modification leads to the accumulation of GAGs in the human body and to the occurrence of severe conditions, such as Hunter ...
Prejanò, Mario +5 more
openaire +1 more source
Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]
, 2019 Alméciga-Díaz, Carlos J +7 more
core +1 more source
Deregulated FGF signaling substantially contributes to early osteogenic defects in Mucopolysaccharidosis type II [PDF]
, 2017 FGF signaling is a key pathway strictly involved in many stages of ossification and gain of function mutations of many FGF pathway components have been associated with bone diseases like craniosynostosis and chondrodysplasia.
Bellesso, Stefania
core +1 more source
Development of Direct Assay of Iduronate-2-Sulfatase for Mucopolysaccharidosis II (Hunter Syndrome) Using UPLC-Tandem Mass Spectrometry [PDF]
, 2015 학위논문 (석사)-- 서울대학교 대학원 : 의학과, 2015. 2. 송정한.Introduction: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency in iduronate-2-sulfatase.
이경훈
core