Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
Hospital Infanta Leonor
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Infanta Leonor (5)
2023
2022
-
Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2020
-
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
2019
-
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2010
-
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280