Author

Fernanda B. Scalco

Observed names: F. B. Scalco, F.B. Scalco, FERNANDA B. SCALCO, Fernanda B Scalco, Fernanda Bertão Scalco, Fernanda Scalco, Scalco, Fernanda B, Scalco, Fernanda Bertao, Scalco, Fernanda Bertão

Observed institutions: Universidade Federal do Rio de Janeiro, National Institutes of Health, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Universidade Estadual Paulista (Unesp)

ORCID: 0000-0002-6032-9102

Observed ORCID: 0000-0002-6032-9102

OpenAlex ID: A5007603626

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

2017 · Anneliese L. Barth, Tatiana S.P.C. de Magalhães, et al. · Molecular Genetics and Metabolism Reports · 49

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Fumaric aciduria: an overview and the first Brazilian case report

2010 · Gabriella Allegri, Marcia J. Fernandes, et al. · Journal of Inherited Metabolic Disease · 45

Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions

2007 · R. E. Simoni, L. N. L. Ferreira Gomes, et al. · Journal of Inherited Metabolic Disease · 44

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

2012 · Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, et al. · Molecular Cytogenetics · 40

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Doping control analysis at the Rio 2016 Olympic and Paralympic Games

2017 · Henrique Marcelo Gualberto Pereira, Vinicius Figueiredo Sardela, et al. · Drug Testing and Analysis · 33

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Determination of Six Pterins in Urine By Lc–MS/MS

2012 · Gabriella Allegri, Heleno José Bezerra Costa Netto, et al. · Bioanalysis · 24

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

2022 · Shino Shimada, Bobby G Ng, et al. · Journal of Medical Genetics · 22

Effect of L -Carnitine Supplementation on Reverse Remodeling in Patients with Ischemic Heart Disease Undergoing Coronary Artery Bypass Grafting: A Randomized, Placebo-Controlled Trial

2017 · Sheila da Silva Guimarães, Wanise de Souza Cruz, et al. · Annals of Nutrition and Metabolism · 16

Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses

2023 · Clarisse L. Torres, Fernanda B. Scalco, et al. · Clinica Chimica Acta · 11

Decompensated Chronic Heart Failure Reduces Plasma L-carnitine

2018 · Sheila Moreira da Silva Guimarães, Wanise Maria de Souza Cruz, et al. · Archives of Medical Research · 9

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

2005 · F.B. Scalco, L.S. Correa-Cerro, et al. · American Journal of Medical Genetics Part A · 9

Plasma Volume Expanders: Use in Medicine and Detecting Misuse in Sports

2011 · Ruth E Simoni, Fernanda B Scalco, et al. · Bioanalysis · 8

Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease

2023 · Mariana B. M. de Moraes, Hygor M. R. de Souza, et al. · Metabolomics · 7

Screening for hydroxyethyl starch (HES) doping in sport

2008 · Fernanda B. Scalco, Ruth E. Simoni, et al. · Journal of science and medicine in sport · 6

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

2006 · Fernanda B. Scalco, Paulo A. Otto, et al. · Genetics and Molecular Biology · 5

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Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

2023 · Hygor M. R. de Souza, Fernanda B. Scalco, et al. · Analytical Methods · 4

Systematic analysis of glycerol: colourimetric screening and gas chromatography–mass spectrometric confirmation

2015 · Vinícius F. Sardela, Fernanda B. Scalco, et al. · Drug Testing and Analysis · 4

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Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário

2007 · Fátima Aparecida Mazzini Amâncio, Fernanda Bertão Scalco, et al. · Jornal Brasileiro de Patologia e Medicina Laboratorial · 4

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Development and Application of a Test Mixture for Untargeted Liquid Chromatography-mass Spectrometry Analysis of Urine Samples

2021 · Clarisse Torres, Vinicius Sardela, et al. · Química Nova · 3

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Inborn Errors of Metabolism, an Important Group of Orphan Neglected Diseases: Investigation of 8,000 Patients in Rio de Janeiro, Brazil

2014 · Fernanda B. Scalco, Maria Lúcia C. Oliveira, et al. · Journal of the Brazilian Chemical Society · 3

L-carnitine supplementation in the recovery of plasma L-carnitine in patients with heart failure submitted to coronary artery bypass grafting

2018 · WANISE M. SOUZA CRUZ, SHEILA M.S. GUIMARÃES, et al. · Anais da Academia Brasileira de Ciências · 2

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Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

2017 · Paula de Almeida Thomazinho, Fernanda Bertão Scalco, et al. · Open Journal of Clinical Diagnostics · 2

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Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

2003 · F.B. Scalco, V.M. Cruzes, et al. · Brazilian Journal of Medical and Biological Research · 2

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Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts

1999 · F.B. Scalco, R. Giugliani, et al. · Brazilian Journal of Medical and Biological Research · 2

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Untargeted Metabolomics of Dried Urine Spot Samples from Pompe Disease Patients

2026 · Hygor M. R. de Souza, Clarisse L. Torres, et al. · Journal of the Brazilian Chemical Society

Works count: 40

Citation count: 354

H-index: 9

I10-index: 9