PatMol-DR
Patoloxía Molecular das Doenzas Raras
Publicacións (21) Publicacións nas que participase algún/ha investigador/a
2024
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Elevated glucose levels increase vascular calcification risk by disrupting extracellular pyrophosphate metabolism
Cardiovascular Diabetology, Vol. 23, Núm. 1
2023
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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Nutrients, Vol. 15, Núm. 18
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The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria
Medicina Clinica, Vol. 160, Núm. 9, pp. 385-391
2017
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The effect of growth hormone replacement on the thyroid axis in patients with hypopituitarism: in vivo and ex vivo studies
Clinical Endocrinology, Vol. 86, Núm. 5, pp. 747-754
2016
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Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome
Endocrine, Vol. 54, Núm. 2, pp. 411-421
2013
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Septic shock non-thyroidal illness syndrome causes hypothyroidism and conditions for reduced sensitivity to thyroid hormone
Journal of Molecular Endocrinology, Vol. 50, Núm. 2, pp. 255-266
2011
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Estudio clínico y molecular de cinco familias con resistencia a la acción de las hormonas tiroideas
Medicina Clinica, Vol. 137, Núm. 12, pp. 551-554
2010
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Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations
Methods in Enzymology (Academic Press Inc.), pp. 375-395
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New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 7, pp. 3522-3526
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Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism
Thyroid, Vol. 20, Núm. 4, pp. 419-424
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Thyroid hormone receptors are down-regulated in skeletal muscle of patients with non-thyroidal illness syndrome secondary to non-septic shock
European Journal of Endocrinology, Vol. 163, Núm. 5, pp. 765-773
2009
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Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.
Thyroid : official journal of the American Thyroid Association, Vol. 19, Núm. 6, pp. 645-649
2008
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Bases genéticas de los procesos tiroideos benignos
Endocrinologia y Nutricion, Vol. 55, Núm. 3, pp. 132-138
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Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain
European Journal of Endocrinology, Vol. 159, Núm. 5, pp. 623-631
2007
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Hyperglycaemic hyperosmolar nonketotic state as a cause of low gonadotrophin levels in postmenopausal diabetic women: A role for severe hypernatraemia
Journal of Neuroendocrinology, Vol. 19, Núm. 12, pp. 983-987
2003
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Diferencias en la atención de las mujeres con alto riesgo cardiovascular respecto a los varones: Estudio multidisciplinario
Medicina Clinica, Vol. 120, Núm. 12, pp. 451-455
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Efecto de la hormona de crecimiento en cardiomiocitos cultivados in vitro
Investigacion Cardiovascular, Vol. 6, Núm. 1, pp. 1-13
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Síndrome de vena cava superior y carcinoma insular de tiroides: El stent como alternativa terapéutica paliativa
Anales de Medicina Interna, Vol. 20, Núm. 6, pp. 301-303
2002
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Efecto de la hormona de crecimiento en cardiomiocitos cultivados in vitro
Investigacion Cardiovascular, Vol. 5, Núm. 2, pp. 83-95
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Glucose metabolism in lean patients with mild type 2 diabetes mellitus: Evidence for insulin-sensitive and insulin-resistant variants
Metabolism: Clinical and Experimental, Vol. 51, Núm. 8, pp. 1047-1052