Endocrinología y nutrición
Servicio
Blanca
González Méndez
Publicaciones en las que colabora con Blanca González Méndez (11)
2020
-
LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2019
-
Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies
Neuroscience, Vol. 396, pp. 119-137
2018
-
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406
-
Bone mineral density in familial partial lipodystrophy
Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50
2016
-
Skipped BSCL2 transcript in celia's encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis
PLoS ONE, Vol. 11, Núm. 7
-
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome
Endocrine, Vol. 54, Núm. 2, pp. 411-421
2015
-
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
Endocrine, Vol. 49, Núm. 1, pp. 139-147
2013
-
A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
2012
-
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations
Clinical Endocrinology, Vol. 76, Núm. 6, pp. 816-824
2010
-
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy
Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187
2009
-
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy
Journal of Medical Genetics, Vol. 46, Núm. 1, pp. 40-48