Results 71 to 80 of about 23,853 (147)

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

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

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

Mucopolysaccharidoses: A biochemical study under limited resources. [PDF]

Mol Genet Metab Rep
Bouzid F, El Fissi H, Karim K, Sebbar MS, Jabir B, Chuis N, Msanda F, Alif N.   +7 more
europepmc   +1 more source

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case. [PDF]

Radiol Case Rep
Boujida N, Jabour S, Elaitari K, Allali N, Chat L, Haddad SE.   +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

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa. [PDF]

J Vitreoretin Dis
Seela JR, Moon JY, Montezuma SR.
europepmc   +1 more source

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source