• 453 Citations
  • 12 Scopus h-Index
20112020

Research output per year

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Research Output

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2018

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Unique presenting laboratory values and a review of biochemical and clinical features

Conboy, E., Vairo, F., Schultz, M., Agre, K., Ridsdale, R., Deyle, D., Oglesbee, D., Gavrilov, D., Klee, E. W. & Lanpher, B., Jan 1 2018, JIMD Reports. Springer, p. 63-69 7 p. (JIMD Reports; vol. 40).

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations
2014

Assessment of basal metabolic rate and nutritional status in patients with gaucher disease type iii

Doneda, D., Vairo, F. P., Lopes, A. L., Reischak-Oliveira, Á., Schestatsky, P., Bianchin, M. M., Moulin, C. C. & Schwartz, I. V. D., Jan 1 2014, JIMD Reports. Springer, p. 37-42 6 p. (JIMD Reports; vol. 14).

Research output: Chapter in Book/Report/Conference proceedingChapter

2013

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

Vairo, F., Netto, C., Dorneles, A., Mittelstadt, S., Wilke, M., Doneda, D., Michelin, K., Ribeiro, C. B., Quevedo, A., Vieira, T., Nalin, T., Lueska, S. & Schwartz, I. V. D., 2013, JIMD Reports. Springer, p. 1-6 6 p. (JIMD Reports; vol. 11).

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations