Results 31 to 40 of about 21,613 (172)
MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS
Вопросы современной педиатрии, 2014 Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya +5 more
doaj +1 more source
PLoS ONE, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Omar Khalid +7 more
doaj +1 more source
Assessment tools in Mucopolysaccharidosis: a Scoping Review Protocol
, 2022 We aim to synthesize the evidence and knowledge gaps regarding existing assessment tools that contribute to the diagnosis, follow-up, evaluation, and stratification of patients with mucopolysaccharidosis (MPS)
Paolo A. Lauretta De Santis +6 more
core +2 more sources
Spine radiograph in dysplasias: A pictorial essay
Indian Journal of Radiology and Imaging, 2020 Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more ...
Pavan Gabra +6 more
doaj +1 more source
Diagnostics, 2020 Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak +8 more
doaj +1 more source
Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region
مجلة الكوفة الطبيةBackground and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
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
A rare case of severe Hunter's Syndrome
CHRISMED Journal of Health and Research, 2018 Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the deficiency of lysosomal enzyme iduronate-2-sulfatase. It results in progressive accumulation of deramatan and heparan sulfates in tissues leading to a wide ...
Sharon Vincent +3 more
doaj +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
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