Results 171 to 180 of about 5,048,722 (239)

Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis. [PDF]

Mol Genet Metab Rep
Dealy J, Inbar-Feigenberg M.
europepmc   +1 more source

Guidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol. [PDF]

Int J Environ Res Public Health
Oliveira VR, Martins YNF, Araújo JIF, Silva EFD, Fuentes MB, Oliveira JSA.   +5 more
europepmc   +1 more source

[Case of mucopolysaccharidosis II--Hunter's syndrome].

Pediatria polska, 1976
M, Walczak, B, Pawlaczyk, T, Sioda, E, Piontek   +3 more
openaire   +1 more source

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source

Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis. [PDF]

Mol Genet Metab Rep
Lusk EN, Percival KA, Weber CA, Prohofsky R, Minett MM, Snow EL.   +5 more
europepmc   +1 more source

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Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

Current Pharmaceutical Design, 2020
Background:Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which leads to the accumulation of glycosaminoglycans (GAGs) in a variety of tissues, resulting in a multisystemic disease that can also impair the central nervous system (CNS).Objective:This review ...
Francyne Kubaski, Filippo Vairo, Guilherme Baldo, Fabiano de Oliveira Poswar, Amauri Dalla Corte, Roberto Giugliani   +5 more
openaire   +3 more sources

Nasal Polyposis in mucopolysaccharidosis type II

BMJ Case Reports, 2021
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Sushmitha Kabekkodu, Suja Sreedharan, Kirti Gupta, Nirupama Murali   +3 more
openaire   +2 more sources