| Mucopolysaccharidosis: caregiver quality of life NR Guarany, AP Vanz, MVMB Wilke, DD Bender, MD Borges, R Giugliani, ... Journal of Inborn Errors of Metabolism and Screening 3, 2326409815613804, 2015 | 24 | 2015 |
| SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey IVD Schwartz, DN Randon, N Monsores, CF Moura de Souza, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 20 | 2021 |
| Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 MVMB Wilke, AD Dornelles, AS Schuh, FP Vairo, SP Basgalupp, ... Orphanet Journal of Rare Diseases 14, 1-7, 2019 | 20 | 2019 |
| Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease F Vairo, F Sperb-Ludwig, M Wilke, K Michellin-Tirelli, C Netto, EC Neto, ... Journal of neuroimmunology 278, 190-193, 2015 | 19 | 2015 |
| Osteopontin: a potential biomarker of Gaucher disease F Vairo, F Sperb-Ludwig, M Wilke, K Michellin-Tirelli, C Netto, EC Neto, ... Annals of hematology 94, 1119-1125, 2015 | 14 | 2015 |
| Enzyme replacement therapy in a patient with Gaucher disease type III: a paradigmatic case showing severe adverse reactions started a long time after the beginning of treatment F Vairo, C Netto, A Dorneles, S Mittelstadt, M Wilke, D Doneda, K Michelin, ... JIMD Reports-Volume 11, 1-6, 2013 | 14 | 2013 |
| Two different presentations of de novo variants of CSNK2B: two case reports MVMB Wilke, BM Oliveira, A Pereira, MJR Doriqui, F Kok, CFM Souza Journal of Medical Case Reports 16, 1-6, 2022 | 12 | 2022 |
| Expanding the phenotype of DNAJC30‐associated Leigh syndrome M Zawadzka, M Krygier, M Pawłowicz, MVMB Wilke, K Rutkowska, ... Clinical Genetics 102 (5), 438-443, 2022 | 12 | 2022 |
| Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report MVMB Wilke, E Morava-Kozicz, MJ Koster, CT Schmitz, SK Foster, ... BMC rheumatology 6 (1), 54, 2022 | 10 | 2022 |
| Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy F Kubaski, ZM Herbst, MG Burin, K Michelin‐Tirelli, FB Trapp, R Gus, ... JIMD reports 63 (2), 162-167, 2022 | 8 | 2022 |
| Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a: Perioperative Glucose and Lactate Homeostasis MVMB Wilke, RH de Kleine, JKG Wietasch, CCA van Amerongen, ... Journal of Inborn Errors of Metabolism and Screening 4, 2326409816649599, 2016 | 6 | 2016 |
| MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway M Gong, J Li, Z Qin, MVMB Wilke, Y Liu, Q Li, H Liu, C Liang, ... The American Journal of Human Genetics 111 (11), 2392-2410, 2024 | 3 | 2024 |
| Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF MVMB Wilke, F Poswar, WV Borelli, K Michelin Tirelli, DN Randon, ... Orphanet Journal of Rare Diseases 18 (1), 309, 2023 | 3 | 2023 |
| A broad characterization of glycogen storage disease iv patients: a clinical, genetic, and histopathological study MVMB Wilke, BM de Oliveira, RT Starosta, M Shinawi, L Lu, M He, Y Ma, ... Biomedicines 11 (2), 363, 2023 | 3 | 2023 |
| Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases MVMB Wilke, EW Klee, R Dhamija, FC Fervenza, B Thomas, N Leung, ... Orphanet Journal of Rare Diseases 19 (1), 216, 2024 | 2 | 2024 |
| A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report MVMB Wilke, L Schimmenti, MQR Lopour, MM Tollefson, EW Klee Molecular Genetics & Genomic Medicine 11 (12), e2271, 2023 | 2 | 2023 |
| Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45, X/46, X, mar (Y)/47, X, mar (Y),+ mar (Y)-Pediatric Case Report MVMB Wilke, EC Costa, JCL Leite, IRS Lucena, TP Hemesath, ... Urology 158, 204-207, 2021 | 2 | 2021 |
| Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease? F Vairo, F Sperb-Ludwig, M Wilke, K Michellin-Tirelli, C Netto, EC Neto, ... Journal of neuroimmunology 283, 63, 2015 | 2 | 2015 |
| Avaliação da frequência de sintomas pré-motores da doença de Parkinson em pacientes adultos com doença de Gaucher tipo 1 MVMB Wilke | 1 | 2018 |
| Proteasome inhibitor as an adjuvant treatment for Gaucher disease? F Vairo, A Quevedo, CB Ribeiro, C Netto, M Wilke, M Camargo, ... Molecular Genetics and Metabolism 111 (2), S107, 2014 | 1 | 2014 |