Results 101 to 110 of about 2,424 (142)

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev
Quadrini KJ, Vrentas C, Duke C, Wilson C, Hinderer CJ, Weinstein DA, Al-Zaidy SA, Browne SE, Wilson JM, Ni YG.   +9 more
europepmc   +1 more source

GM1 gangliosidosis type 3 [PDF]

, 2020
openaire   +1 more source

GM1 gangliosidosis type 1 [PDF]

, 2020
openaire   +1 more source

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis. [PDF]

Mol Genet Metab, 2020
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ.   +4 more
europepmc   +1 more source

Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation. [PDF]

Stem Cell Reports, 2020
Kajihara R, Numakawa T, Odaka H, Yaginuma Y, Fusaki N, Okumiya T, Furuya H, Inui S, Era T.   +8 more
europepmc   +1 more source

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. [PDF]

Bone, 2020
Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ.   +7 more
europepmc   +1 more source

GM1 gangliosidosis type 2 [PDF]

, 2020
openaire   +1 more source

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis. [PDF]

Clin Park Relat Disord, 2019
Mehta S, Kapila AT, Ray S, Prabhat N, Chakravarty K, Lal V.   +5 more
europepmc   +1 more source

GM1 gangliosidosis type I.

Indian pediatrics, 1990
N, Sathy, K M, Krishnamoorthy, A, Ravikumar   +2 more
openaire   +1 more source

GM1 gangliosidosis, type II.

Indian pediatrics, 1982
Z M, Patel, S S, Iyer, L M, Ambani, R H, Suchak, R P, Aggarwal   +4 more
openaire   +1 more source