| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy E Malfatti, M Bugiani, F Invernizzi, CFM de Souza, L Farina, F Carrara, ... Brain 130 (7), 1894-1904, 2007 | 161 | 2007 |
| Triagem neonatal de distúrbios metabólicos CF Souza, IV Schwartz, R Giugliani Ciência & Saúde Coletiva 7, 129-137, 2002 | 107 | 2002 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 99 | 2018 |
| Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and inherited disorders of gluconeogenesis DA Weinstein, U Steuerwald, CFM De Souza, TGJ Derks Pediatric Clinics 65 (2), 247-265, 2018 | 87 | 2018 |
| GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability EM Lodder, P De Nittis, CD Koopman, W Wiszniewski, CFM de Souza, ... The American Journal of Human Genetics 99 (3), 704-710, 2016 | 73 | 2016 |
| Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience M Wajner, D de Moura Coelho, R Ingrassia, AB de Oliveira, ... Clinica Chimica Acta 400 (1-2), 77-81, 2009 | 71 | 2009 |
| Emerging drugs for the treatment of mucopolysaccharidoses R Giugliani, A Federhen, F Vairo, C Vanzella, G Pasqualim, LMR Da Silva, ... Expert opinion on emerging drugs 21 (1), 9-26, 2016 | 67 | 2016 |
| Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison JB Eisengart, KD Rudser, Y Xue, P Orchard, W Miller, T Lund, ... Genetics in Medicine 20 (11), 1423-1429, 2018 | 62 | 2018 |
| Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series C Lampe, AK Bosserhoff, BK Burton, R Giugliani, CF de Souza, C Bittar, ... Journal of inherited metabolic disease 37, 823-829, 2014 | 62 | 2014 |
| Effect of short-and long-term exposition to high phenylalanine blood levels on oxidative damage in phenylketonuric patients A Sitta, AG Barschak, M Deon, AT Barden, GB Biancini, PR Vargas, ... International Journal of Developmental Neuroscience 27 (3), 243-247, 2009 | 58 | 2009 |
| Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know R Reichert, LG Campos, F Vairo, CFM de Souza, JA Pérez, JÁ Duarte, ... Radiographics 36 (5), 1448-1462, 2016 | 53 | 2016 |
| ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies E Morava, V Tiemes, C Thiel, N Seta, P de Lonlay, H de Klerk, M Mulder, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 48 | 2016 |
| Glycogen storage disease type I: clinical and laboratory profile BL Santos, CFM Souza, L Schuler-Faccini, L Refosco, M Epifanio, T Nalin, ... Jornal de pediatria 90 (6), 572-579, 2014 | 48 | 2014 |
| Lessons learned from 40 novel PIGA patients and a review of the literature A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ... Epilepsia 61 (6), 1142-1155, 2020 | 41 | 2020 |
| Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire SC Grünert, TGJ Derks, K Adrian, K Al-Thihli, D Ballhausen, J Bidiuk, ... Genetics in medicine 24 (8), 1781-1788, 2022 | 38 | 2022 |
| Clinical aspects of neuropathic lysosomal storage disorders LB Jardim, MM Villanueva, CFM Souza, CBO Netto Journal of inherited metabolic disease 33, 315-329, 2010 | 37 | 2010 |
| Glycogen storage disease type Ia: current management options, burden and unmet needs TGJ Derks, DF Rodriguez-Buritica, A Ahmad, F de Boer, ML Couce, ... Nutrients 13 (11), 3828, 2021 | 36 | 2021 |
| Maple syrup urine disease in Brazil: a panorama of the last two decades S Herber, IVD Schwartz, T Nalin, CBO Netto, JS Camelo, ML Santos, ... Jornal de pediatria 91 (3), 292-298, 2015 | 33 | 2015 |
| Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: Effect of long-term enzyme replacement therapy and relation with … CED Jacques, B Donida, CP Mescka, DGB Rodrigues, DP Marchetti, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1862 (9 …, 2016 | 32 | 2016 |
| Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders DR Málaga, AC Brusius-Facchin, M Siebert, G Pasqualim, ... Genetics and Molecular Biology 42 (1 suppl 1), 197-206, 2019 | 31 | 2019 |
