Results 131 to 140 of about 32,710 (240)
Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III [PDF]
Sleep ScienceBoth non-epileptic sleep disturbances and epilepsy are common in patients with mucopolysaccharidoses (MPS), so diagnosis of sleep-related hypermotor epilepsy in these patients is a tackling issue.
Anna A. Abramova +5 more
doaj +1 more source
Biomarkers in patients with mucopolysaccharidosis type II and IV
Molecular Genetics and Metabolism Reports, 2019 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka +11 more
semanticscholar +1 more source
Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]
, 2016 In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy +3 more
core +1 more source
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
Metabolic brain disease, 2019 Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS).
Himani Tanwar +3 more
semanticscholar +1 more source
Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]
, 2019 Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie +4 more
core +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2015 Introduction :Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive.
Juan Politei +4 more
openaire +2 more sources
A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation
Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia +3 more
wiley +1 more source
DiagnosticsIntroduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński +5 more
doaj +1 more source
Stomatological Problems in Child with the II Type Mucopolysaccharidosis
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
doaj +1 more source
Molecular Genetics and Metabolism, 2018 Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase.
H. Peracha +15 more
semanticscholar +1 more source