Results 141 to 150 of about 25,294 (214)

Mucopolysaccharidosis

Tzu Chi Medical Journal, 2011
openaire   +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

AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease) [PDF]

, 2018
et al,, Jiang, Xuntain, Ory, Daniel S
core   +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

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses. [PDF]

Biochem Biophys Rep
Oboshi W, Hirakiyama A, Miura M, Omachi H, Tanaka M, Seo JH, Ohtake A, Osawa Y, Ishige M, Kosuga M, Munenaga T, Migita O, Nyuzuki H, Sasai H, Fukuda T, Sano S, Ito T, Bo R, Takeshima Y, Esaki H, Inoue T, Nagamitsu S, Watanabe Y, Nakamura K, Sawada H, Maruyama S, Murayama K, Okuyama T.   +27 more
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

Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I. [PDF]

Pharmaceutics
Santos HS, Poletto E, Vera LNP, Farinon M, Kubaski F, Carneiro PB, Carniel WDS, Giugliani R, Matte U, Teixeira HF, Schuh RS, Baldo G.   +11 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

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