MARÍA TERESA
GARCÍA SILVA
Forscherin bis um 2019
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Universitario Nuestra Señora de Candelaria (5)
2019
-
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
-
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2017
-
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2010
-
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series
Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366
2009
-
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566