Mara Lúcia Schmitz Ferreira Santos

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Roberto Giugliani, Andressa Federhen, María Verónica Muñoz Rojas et al. · Genetics and Molecular Biology · 2010 · 189 citations · Full text

Life Sciences, Pathobiology, Pathology +12

Status dystonicus: study of five cases

Hélio Afonso Ghizoni Teive, Renato P. Munhoz, Mônica Marcos de Souza et al. · Arquivos de Neuro-Psiquiatria · 2005 · 82 citations · Full text

Medicine, Neurological Surgery, Neurology +9

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon et al. · Orphanet Journal of Rare Diseases · 2022 · 50 citations · Full text

Life Sciences, Clinical Sciences, Genetics +8

Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro et al. · Journal of Medical Genetics · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Maple syrup urine disease in Brazil: a panorama of the last two decades

Silvani Herber, Ida Vanessa Döederlein Schwartz, Tatiéle Nalin et al. · Jornal de Pediatria · 2014 · 39 citations · Full text

Medicine, Psychiatry, Clinical Epidemiology +13