Results 41 to 50 of about 12,452,915 (192)
MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]
, 2010 The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core +1 more source
Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]
, 2012 Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta +5 more
core +2 more sources
Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II
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
doaj +1 more source
JIMD Reports, 2022 Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life.
Chiel J. deBode +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo +5 more
wiley +1 more source
, 2012 Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature ...
Nava, Esmeralda +9 more
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden +3 more
wiley +1 more source
, 2014 Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.
Anna Tylki-Szymańska (508670) +3 more
core +1 more source
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source