Results 151 to 160 of about 12,127 (209)

Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential. [PDF]

Cell Death Dis
Chen TY, Lin SP, Huang DF, Huang HS, Tsai FC, Lee LJ, Lin HY, Huang HP.   +7 more
europepmc   +1 more source

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]. [PDF]

Mol Genet Metab Rep
Yamazaki N, Ohira M, Takada S, Ohtake A, Onodera M, Nakanishi M, Okuyama T, Mashima R.   +7 more
europepmc   +1 more source

Sequencing the Genome of the Domestic Cat Felis catus [PDF]

, 2002
Giger, Urs, Haskins, M. E., Lander, Eric S., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Pederson, Niels C., Wildt, David E., Yuhki, Naoya   +8 more
core   +1 more source

Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice. [PDF]

Mol Ther Methods Clin Dev
Smith MC, Belur LR, Karlen AD, Erlanson O, Furcich J, Lund TC, Seelig D, Kitto KF, Fairbanks CA, Kim KH, Buss N, McIvor RS.   +11 more
europepmc   +1 more source

An empowered, clinically viable hematopoietic stem cell gene therapy for the treatment of multisystemic mucopolysaccharidosis type II. [PDF]

Mol Ther
Das S, Rruga F, Montepeloso A, Dimartino A, Spadini S, Corre G, Patel J, Cavalca E, Ferro F, Gatti A, Milazzo R, Galy A, Politi LS, Rizzardi GP, Vallanti G, Poletti V, Biffi A.   +16 more
europepmc   +1 more source

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients. [PDF]

Int J Mol Sci
Carvalho S, Santos JI, Moreira L, Duarte AJ, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF.   +21 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Mucopolysaccharidosis type II – genotype/phenotype aspects

Acta Paediatrica, 2002
Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore,
Froissart, R, Silva, IMoreira da, Guffon, N, Bozon, D, Maire, I   +4 more
openaire   +3 more sources

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Molecular Genetics and Metabolism, 2023
We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017 and April 30, 2022. A total of 76 infants were referred for diagnostic testing, 0.01% of the screened population. Of these, eight
Barbara K, Burton, Vera, Shively, Allegra, Quadri, Lauren, Warn, Jennifer, Burton, Dorothy K, Grange, Katherine, Christensen, Daniel, Groepper, Laura, Ashbaugh, Joan, Ehrhardt, Khaja, Basheeruddin   +10 more
openaire   +2 more sources