Results 101 to 110 of about 1,965 (163)

Lysosomes and mucopolysaccharidoses [PDF]

Biochemical Journal, 1969
H G, Hers, F, van Hoof
openaire   +2 more sources

Mucopolysaccharidoses (MPS) [PDF]

Journal of Inherited Metabolic Disease, 2013
openaire   +2 more sources

The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023

Diagnostics
Objectives: Mucopolysaccharidoses (MPSs) are a group of a rare inherited lysosomal storage diseases caused by a deficiency or complete lack of lysosomal enzymes participating in glycosaminoglycan (GAG) degradation, which leads to multisystemic impairment
Assel Tulebayeva, Gulnar Mukhambetova, Maira Sharipova, Anna Tylki-Szymanska   +3 more
doaj   +1 more source

Safety of anesthesia for children with mucopolysaccharidoses : A retrospective analysis of 54 patients

, 2018
BackgroundComplications are common during anesthesia for patients with mucopolysaccharidoses. San Gerardo Hospital (Italy) is a reference center for mucopolysaccharidoses with a dedicated pediatric anesthesia service.
Zanella, Alberto, Bosatra, Mariagrazia, Vittorio Scaravilli, Alessia La Bruna, Sosio, Simone, Moretto, Alessandra, Serena Gasperini, Simone Sosio, Pesenti, Antonio, Mariagrazia Bosatra, Antonio Pesenti, Alberto Zanella, Valentina Ciceri, Alessandra Moretto, Flandoli, Claudia, La Bruna, Alessia, Parini, Rossella, Claudia Flandoli, Rossella Parini, Scaravilli, Vittorio, Ciceri, Valentina, Gasperini, Serena   +21 more
core   +1 more source

Genetic Substrate Reduction Therapy for Mucopolysaccharidoses type III: toward a siRNA-containing nanoparticle targeted to brain cells

, 2020
The classical therapeutic approach for LSDs, enzyme replacement therapy, would hardly rise as a potentially successful tool to reduce the disease burden in MPS III patients, as it is long known to have no impact on neuropathology. A tempting alternative,
Alves, Sandra, Gaspar, Paulo, Coutinho, Maria Francisca, Santos, Juliana Inês, Jurado, Amália Silva, Prata, Maria João, Pedroso de Lima, Maria da Conceição   +6 more
core  

Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease

Brain Sciences
Background: The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism,
Anna Waśniewska-Włodarczyk, Renata Pepaś, Oskar Rosiak, Wiesław Konopka   +3 more
doaj   +1 more source

Emerging treatment options for the mucopolysaccharidoses [PDF]

, 2017
Charles University Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Supervisor: Title of diploma thesis: Kristína Petrášová RNDr. Eva Novotná, Ph.D.
Petrášová, Kristína
core  

Ocular manifestations in the mucopolysaccharidoses - a review

, 2010
P>Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the accumulation of glycosaminoglycans deposits in ocular tissues or secondary to increased intracranial ...
Tormene AP, Suppiej A, Kruse FE, Guffon N, Parini R, Ashworth JL, Bachmann B   +6 more
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THE GENETIC MUCOPOLYSACCHARIDOSES

Medicine, 1965
V A, McKusick, D, Kaplan, D, Wise, W B, Hanley, S B, Suddarth, M E, Sevick, A E, Maumanee   +6 more
openaire   +2 more sources

Mucopolysaccharidoses and airways (Search strategies)

Ce jeu de données contient les stratégies de recherche pour PubMed, Medline (Ovid), Embase (Ovid), EBM reviews (Ovid), and Cinahl (Ebsco). Quand on les exécute dans leurs bases de données respectives, ces stratégies repêchent les articles sur ...
Pincivy, Alix, Dodin, Philippe
core   +1 more source