Results 91 to 100 of about 1,294 (181)

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

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

B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. [PDF]

Neuromolecular Med
Yanbul S, Calıskan TU, Turali MC, Seyrantepe V.   +3 more
europepmc   +1 more source

Symptomatic hyperekplexia: an important clue to neurodegeneration in children. [PDF]

BMJ Case Rep, 2023
Banyal P, Arora M, Saini AG.
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

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

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

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

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report. [PDF]

Front Pediatr, 2023
Chen Q, Lu F.
europepmc   +1 more source

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]

Mol Genet Metab
Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR.   +9 more
europepmc   +1 more source

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. [PDF]

Neurology, 2023
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.   +13 more
europepmc   +1 more source