Results 151 to 160 of about 32,710 (240)

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

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 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

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology. [PDF]

Case Rep Ophthalmol Med
Lobo R, Al-Hinai A, Al Busaidi A.
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

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III. [PDF]

Mol Genet Metab Rep
Seo JH, Sou W, Chinen Y, Okuyama T.
europepmc   +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

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source