Results 151 to 160 of about 12,778 (217)

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

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry. [PDF]

World J Clin Pediatr
Buchinskaya N, Vechkasova A, Vashakmadze N, Namazova-Baranova L, Ivanov D, Zakharova E, Kutsev S, Kostik M.   +7 more
europepmc   +1 more source

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases. [PDF]

Head Face Med
Çoğulu D, Uçar SK, Canda E, Atila EK, Alpöz AR, Çoker M.   +5 more
europepmc   +1 more source

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. [PDF]

World J Clin Pediatr
Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +7 more
europepmc   +1 more source

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib. [PDF]

Iran J Pathol
Vahedi-Larijani L, Sotoudeh Anvari M, Biglari A, Nabati M, Banihashemi H, Mohammadi Kharkeshi M.   +5 more
europepmc   +1 more source

<i>In vivo</i> CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice. [PDF]

Genes Dis
Yu H, Qin Q, Cui S, Wa Y, Dong K, Ji W, Jia X, Fu S, Wu J, Sun W.   +9 more
europepmc   +1 more source