Browsing by Author "Chiesa, Ana"

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    • Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey 
      Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana; Specola, Norma; Pereyra, Marcela; Saborío Rocafort, Manuel; Salazar, María Florencia; Leal Witt, María Jesús; Castro, Gabriela; Peñaloza, Felipe; Palma Wong, Sunling; Badilla Porras, Ramsés; Ortiz Paranza, Lourdes; Sanabria, Marta Cristina; Vela Amieva, Marcela; Morales, Marco; Caro Naranjo, Amanda Rocío; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo Lindo, José Fernando; Pérez, Ceila; Martínez Rey, Laritza; Zayas Torriente, Georgina María; Farret Refosco, Lilia; Doederlein Schwartz, Ida Vanessa; Cornejo Espinoza, Verónica (MDPI, 2021)
      This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed ...
    • Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel ... 
      Rivolta, Carina M.; Olcese, María C.; Belforte, Fiorella S.; Chiesa, Ana; Gruñeiro-Papendieck, Laura; Iorcansky, Sonia; Herzovich, Viviana; Cassorla Goluboff, Fernando; Gauna, Alicia; Gonzalez-Sarmiento, Rogelio; Targovnik, Héctor M. (2009)
      Thyroid Hormone Receptor β (THRB) defects, typically transmitted as autosomal dominant traits, cause Resistance to Thyroid Hormone (RTH). We analyzed the THRB gene in thirteen South American patients with clinical evidence ...