日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

拉丁美洲苯丙酮尿症诊断和治疗的现状及挑战:一项多中心调查

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; Wong, Sunling Palma; Porras, Ramsés Badilla; Paranza, Lourdes Ortiz; Sanabria, Marta Cristina; Amieva, Marcela Vela; Morales, Marco; Naranjo, Amanda Rocío Caro; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo-Lindo, José Fernando; Perez, Ceila; Rey, Laritza Martínez; Torriente, Georgina María Zayas; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein; Cornejo, Veronica

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

rs2229611 (G6PC:c.*23 T>C) 与巴西患者的 Ia 型糖原贮积症相关

Pinheiro, Franciele Cabral; Sperb-Ludwig, Fernanda; Fagundes Verch, Juliana Maria; Dos Santos, Bruna Bento; de Souza, Carolina Fischinger Moura; Schwartz, Ida Vanessa Doederlein

Cardiovascular findings in classic homocystinuria

经典型同型半胱氨酸尿症的心血管表现

Kalil, Marco Antônio Baptista; Donis, Karina Carvalho; Poswar, Fabiano de Oliveira; Dos Santos, Bruna Bento; Santos, Ângela Barreto Santiago; Schwartz, Ida Vanessa Doederlein