Synthetic genistein derivatives as modulators of glycosaminoglycan synthesis [PDF]
, 2012 Background: Mucopolysaccharidoses (MPS) are severe metabolic disorders caused by 26 accumulation of undegraded glycosaminoglycans (GAGs) in lysosomes due to defects in certain 27 lysosomal hydrolases. Substrate reduction therapy (SRT) has been proposed
Gabig-Cimińska, Magdalena +6 more
core +1 more source
Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)
Reports, 2022 Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with a deficiency of alpha-L iduronidase, which causes a lack of catabolism of glycosaminoglycans (GAGs).
Mattia Di Bartolomeo +10 more
doaj +1 more source
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
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Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience
International Journal of Neonatal Screening, 2020 There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate ...
Lorne A. Clarke +3 more
doaj +1 more source
Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]
, 2018 There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal +2 more
core +2 more sources
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Mucopolysaccharidosis VI in cats - clarification regarding genetic testing [PDF]
, 2016 Debate. Published online: 02 July 2016.The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes ...
Beccaglia, M. +5 more
core +5 more sources
Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses
Diagnostics, 2020 Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficiency ...
Rajendra Singh +6 more
doaj +1 more source
Nonsteroidal anti-inflammatory drugs modulate cellular glycosaminoglycan synthesis by affecting EGFR and PI3K signaling pathways [PDF]
, 2017 In this report, selected non-steroidal anti-inflammatory drugs (NSAIDs), indomethacin and nimesulide, and analgesics acetaminophen, alone, as well as in combination with isoflavone genistein as potential glycosaminoglycan (GAG) metabolism modulators ...
Banecki, Bogdan +6 more
core +2 more sources