Results 111 to 120 of about 15,504 (206)

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Diagnostics
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births.
Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț, Alina Costina Luca   +9 more
doaj   +1 more source

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Proceedings 35th Symposium ESVN‐ECVN

Journal of Veterinary Internal Medicine, Volume 39, Issue 2, March/April 2025.
wiley   +1 more source

Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA

Brazilian Journal of Medical and Biological Research, 2008
GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000.
R.C. Balestrin, G. Baldo, M.B. Vieira, R. Sano, J.C. Coelho, R. Giugliani, U. Matte   +6 more
doaj  

Unravelling the tangle of genetic testing : part 2 [PDF]

, 2007
Apart from the DNA sequences that can be translated into the corresponding protein, the gene contains or is related to other sequences that control its function and expression.
Scerri, Christian A.
core  

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]

Orphanet J Rare Dis
Rodriguez MB, Pulikottil-Jacob R, Heuer K, Perez NG, Waggoner C, Jussila D, Gwaltney C, Krupnick R, Ng-Mak D.   +8 more
europepmc   +1 more source

VaProS: a database-integration approach for protein/genome information retrieval [PDF]

core   +1 more source

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Regulation of lysosomal ion homeostasis by channels and transporters [PDF]

, 2016

core   +1 more source