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Lectura recomendada:
Assessment of Safety and Efficacy of Long-term Treatment with Combination Lumacaftor and Ivacaftor Therapy in Patients with Cystic Fibrosis Homozygous for the F508del-CFTR Mutation (PROGRESS): a Phase 3, Extension Study
The Lancet Respiratory Medicine, 5(2):107-118
Lectura recomendada:
Case Report of Treatment Experience with Idursulfase Beta (Hunterase) in an Adolescent Patient with MPS II
Molecular Genetics and Metabolism Reports, 12:28-32
Lectura recomendada:
[Cytogenetic Abnormalities on Chromosome 18 Associated with Bipolar Affective Disorder or Schizophrenia]
British Journal of Psychiatry, 170:278-280
Lectura recomendada:
[Gene-Enviroment Interaction in Vulnerability to Schizophrenia: Findings From the Finnish Adoptive Family Study of Schizophrenia]
American Journal of Psychiatry, 154(3):355-362
Lectura recomendada:
OPG and RANK Polymorphisms are both Associate with Cortical Bone Mineral Density: Findings from a Metaanalysis of the Avon Longitudinal Study of Parents and Children and Gothenburg Osteoporosis and Obesity Determinants Cohorts
Journal of Clinical Endocrinology and Metabolism, 95(8):3940-3948
Lectura recomendada:
Structural Rearrangements of Trisomies Are a Risk Marker of Clinical Progression in Hyperdiploid Multiple Myeloma
Anticancer Research, 31(5):1599-1602
Lectura recomendada:
Retrospective Comparative Analysis of Metabolic Control and Early Complications in Familial and Sporadic Type 1 Diabetes Patients
Journal of Diabetes and its Complications, 26(3):219-224
Lectura recomendada:
Correction of the F508del-CFTR Protein Processing Defect in Vitro by the Investigational Drug VX-809
Proceedings of the National Academy of Sciences of the United States of America, 108(46):18843-18848
Lectura recomendada:
[5,10-Methylenetetrahydrofolate Reductase 677CFLECHAT and 1298AFLECHAC Mutations Are Genetic Determinants of Eleveted Homocysteine]
QJM, 96:297-303
Señale con cuál de las siguientes enfermedades neoplásicas suele asociarse el carcinoma medular de tiroides:
Introducción:
El carcinoma medular de tiroides se puede presentar como caso esporádico o familiar. La detección temprana de un caso de este último tipo en una persona en apariencia sana como consecuencia de la pesquisa entre los integrantes de la familia del enfermo, lleva al tratamiento eficaz antes de que aparezcan síntomas o signos sugestivos de la presencia del tumor.
Lectura recomendada:
Medullary Thyroid Carcinoma: A 20-Year Experience from a Centre in South India
ANZ Journal of Surgery, 77(3):130-134