scholarly journals Late-infantile GM1 gangliosidosis

Medicine ◽  
2022 ◽  
Vol 101 (1) ◽  
pp. e28435
Author(s):  
Eu Seon Noh ◽  
Hye Mi Park ◽  
Min Sun Kim ◽  
Hyung-Doo Park ◽  
Sung Yoon Cho ◽  
...  
Keyword(s):  
Gm1 Gangliosidosis

GM1 gangliosidosis – therapeutical trial with Miglustat (Zavesca®) – a case report

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
JC Minet ◽  
B Fowler ◽  
J Lütschg
Keyword(s):  
Case Report ◽  
Gm1 Gangliosidosis

Altered levels of tissue gangliosides and glycoproteins in the infantile form of GM1-gangliosidosis

1974 ◽  
Vol 57 (3) ◽  
pp. 301-306 ◽  
Author(s):  
Bruno Berra ◽  
Sylvia Di Palma ◽  
Eric G. Brunngraber
Keyword(s):  
Infantile Form ◽  
Gm1 Gangliosidosis

scholarly journals β-Galactosidase in Tissue Culture Derived from Human Skin and Bone Marrow: Enzyme defect in GM1 Gangliosidosis

1969 ◽  
Vol 3 (6) ◽  
pp. 532-537 ◽  
Author(s):  
Howard R Sloan ◽  
B William Uhlendorf ◽  
Cecil B Jacobson ◽  
Donald S Fredrickson
Keyword(s):  
Bone Marrow ◽  
Tissue Culture ◽  
Human Skin ◽  
Enzyme Defect ◽  
Gm1 Gangliosidosis

scholarly journals Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: Possible use for assessment of a therapeutic regimen

2007 ◽  
Vol 1133 ◽  
pp. 200-208 ◽  
Author(s):  
Hiroyuki Satoh ◽  
Osamu Yamato ◽  
Tomoya Asano ◽  
Madoka Yonemura ◽  
Toyofumi Yamauchi ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Therapeutic Regimen ◽  
Gm1 Gangliosidosis ◽  
Cerebrospinal Fluid Biomarkers

Characteristics of asparagine-linked sugar chains of sphingolipid activator protein 1 purified from normal human liver and GM1 gangliosidosis (type 1) liver

Biochemistry ◽  
1990 ◽  
Vol 29 (12) ◽  
pp. 3030-3039 ◽  
Author(s):  
Katsuko Yamashita ◽  
Koji Inui ◽  
Kazuhide Totani ◽  
Naohisa Kochibe ◽  
Masumi Furukawa ◽  
...  
Keyword(s):  
Human Liver ◽  
Activator Protein 1 ◽  
Gm1 Gangliosidosis ◽  
Activator Protein ◽  
Normal Human Liver ◽  
Normal Human ◽  
Sugar Chains

scholarly journals Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases

2016 ◽  
Vol 52 (32) ◽  
pp. 5497-5515 ◽  
Author(s):  
Elena M. Sánchez-Fernández ◽  
José M. García Fernández ◽  
Carmen Ortiz Mellet
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Future Outlook ◽  
Gm1 Gangliosidosis ◽  
Pharmacological Chaperones ◽  
Storage Disorders

Recent advancements and future outlook on pharmacological chaperones for lysosomal storage disorders using glycomimetics are discussed.

scholarly journals Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

2017 ◽  
Vol 25 (4) ◽  
pp. 892-903 ◽  
Author(s):  
Heather L. Gray-Edwards ◽  
Debra S. Regier ◽  
Jamie L. Shirley ◽  
Ashley N. Randle ◽  
Nouha Salibi ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Clinical Efficacy ◽  
Gm1 Gangliosidosis ◽  
Novel Biomarkers ◽  
Feline Model

scholarly journals Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain

2011 ◽  
Vol 52 (7) ◽  
pp. 1345-1351 ◽  
Author(s):  
Julian R. Arthur ◽  
Karie A. Heinecke ◽  
Thomas N. Seyfried
Keyword(s):  
Mouse Brain ◽  
Gm1 Gangliosidosis
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