Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing. Tresbach, R., H., Sperb-Ludwig, F., Ligabue-Braun, R., Bitencourt, F., H., d., Tonon, T., Souza, C., F., M., d., Poswar, F., d., O., Leite, M., E., d., Q., Amorim, T., Porta, G., Seda Neto, J., Miura, I., K., Steiner, C., E., Martins, A., M., Pessoa, A., L., S., Ribeiro, E., M., & Schwartz, I., V., D. Molecular Genetics and Metabolism, 143(1-2):108569, 9, 2024.
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing [link]Website  doi  bibtex   
@article{
 title = {Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing},
 type = {article},
 year = {2024},
 pages = {108569},
 volume = {143},
 websites = {https://linkinghub.elsevier.com/retrieve/pii/S1096719224004530},
 month = {9},
 id = {6f93eec2-9493-3a63-a68f-d35661d61869},
 created = {2024-12-22T13:01:40.732Z},
 file_attached = {false},
 profile_id = {a1b2ded6-b257-3e56-ac7c-9d438762d170},
 last_modified = {2024-12-22T13:01:40.732Z},
 read = {false},
 starred = {false},
 authored = {true},
 confirmed = {true},
 hidden = {false},
 private_publication = {false},
 bibtype = {article},
 author = {Tresbach, Rafael Hencke and Sperb-Ludwig, Fernanda and Ligabue-Braun, Rodrigo and Bitencourt, Fernanda Hendges de and Tonon, Tássia and Souza, Carolina Fischinger Moura de and Poswar, Fabiano de Oliveira and Leite, Maria Efigênia de Queiroz and Amorim, Tatiana and Porta, Gilda and Seda Neto, João and Miura, Irene Kazumi and Steiner, Carlos Eduardo and Martins, Ana Maria and Pessoa, André Luiz Santos and Ribeiro, Erlane Marques and Schwartz, Ida Vanessa Doederlein},
 doi = {10.1016/j.ymgme.2024.108569},
 journal = {Molecular Genetics and Metabolism},
 number = {1-2}
}

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