Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alicia Bright"'
Publikováno v:
Clinical Genetics. 89:625-629
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a complete absence of GM3 and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest seve
Autor:
Angela Rowan, Karen Cechner, Baozhong Xin, Max Wiznitzer, Qianyang Huang, Andi Wang, Paul McJarrow, Danting Liu, Julia Szekely, Heng Wang, Valerie Sency, Aimin Zhou, Alicia Bright, JoAnn Brace
Publikováno v:
JIMD Reports ISBN: 9783662586464
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GM3D) causes an absence of GM3 and all downstream biosynthetic derivatives. The affected individuals manifest with severe irritability, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621b332bd4d8c76576f3909b510df700
https://doi.org/10.1007/8904_2018_134
https://doi.org/10.1007/8904_2018_134
Publikováno v:
American Journal of Medical Genetics Part A. 161:875-879
Ganglioside GM3 synthase deficiency is a rare autosomal recessive metabolic disorder characterized by infantile onset of severe irritability and epilepsy, failure to thrive, developmental stagnation, and cortical blindness. Because of the lack of eas
In their Letter to the Editor, du Moulin et al. (1) speculate that the autosomal recessive condition we described in Old Order Amish (2) might be Aicardi–Goutieres syndrome (AGS). They suggest head computed tomography (CT) and cerebrospinal fluid (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b27c54e95d2048c54dc583f394158f3
https://europepmc.org/articles/PMC3127905/
https://europepmc.org/articles/PMC3127905/
Autor:
Haiyan Tan, Guiyun Wu, Dimitris P. Agamanolis, Stephen E. Jones, Jilda Vargus-Adams, Erik G. Puffenberger, Heng Wang, Aimin Zhou, Claas Hinze, Baozhong Xin, Alicia Bright
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 108(13)
We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disabilit