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A

Ana María Martins

universidade federal de são paulo (unifesp)
H指数:26
被引数:2,405

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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing

通过大规模并行测序对巴西患者的枫糖浆尿液疾病进行诊断

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-09-010
PRE
Tresbach, Rafael Hencke; Sperb-Ludwig, Fernanda; Ligabue-Braun, Rodrigo; de Bitencourt, Fernanda Hendges; Tonon, Tassia; de Souza, Carolina Fischinger Moura; Poswar, Fabiano de Oliveira; Leite, Maria Efigenia de Queiroz; Amorim, Tatiana; Porta, Gilda; Neto, Joao Seda; Miura, Irene Kazumi; Steiner, Carlos Eduardo; Martins, Ana Maria; Pessoa, Andre Luiz Santos; Ribeiro, Erlane Marques; Schwartz, Ida Vanessa Doederlein
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-07-0114
OAAI
Wanner, Christoph; Ortiz, Alberto; Wilcox, William R.; Hopkin, Robert J.; Johnson, Jack; Ponce, Elvira; Ebels, Johan T.; Batista, Julie L.; Maski, Manish; Politei, Juan M.; Martins, Ana Maria; Banikazemi, Maryam; Linhart, Ales; Mauer, Michael; Oliveira, Joao P.; Weidemann, Frank; Germain, Dominique P.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-02-0112
OAAI
Hopkin, Robert J.; Cabrera, Gustavo H.; Jefferies, John L.; Yang, Meng; Ponce, Elvira; Brand, Eva; Feldt-Rasmussen, Ulla; Germain, Dominique P.; Guffon, Nathalie; Jovanovic, Ana; Kantola, Ilkka; Karaa, Amel; Martins, Ana M.; Tondel, Camilla; Wilcox, William R.; Yoo, Han-Wook; Burlina, Alessandro P.; Mauer, Michael
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-05-0111
OAAI
Horovitz, Dafne D. G.; Leao, Emilia K. E. A.; Ribeiro, Erlane M.; Martins, Ana M.; Barth, Anneliese L.; Neri, Joao I. C. F.; Kerstenetzky, Marcelo; Siqueira, Ana C. M.; Ribeiro, Bethania F. R.; Kim, Chong A.; Santos, Francisca C.; Franco, Jose F. S.; Lichtvan, Leniza C. L.; Giuliani, Liane R.; Rodrigues, Maria Do C. S.; Bonatti, Renata C. F.; Teixeira, Thais B.; Goncalves, Alexandra; Lourenco, Charles M.; Pereira, Ane S. S.; Acosta, Angelina X.

研究方向

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