Results 91 to 100 of about 1,277 (157)

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. [PDF]

Mol Genet Metab
Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF.   +10 more
europepmc   +1 more source

Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease [PDF]

, 2012
Audrey Arfi, Daniel Scherman, Magali Richard   +2 more
core   +2 more sources

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2013
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

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

Animal models of GM2 gangliosidosis: utility and limitations [PDF]

core   +2 more sources

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis [PDF]

, 2013
K. Harzer, K. Sandhoff
core   +1 more source

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

Cureus
Noites I, Coelho AS, Magalhães C, Ramos S, Laranjeira F, Lacerda L, Taipa R, Garrido C, Temudo T, Figueiroa S.   +9 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source