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Maria Fernanda Dantas

Research Profile

Chemicals & Drugs

Physiology

Disorders

Living Beings

Newborn Infant

Procedures

Genes & Molecular Sequences

Concepts & Ideas

Consanguinity

Geographic Areas

Greece

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Co-author Network

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Publications

TOP 3
L Pinto; Paulo R G Zen; R Rosa; Giorgio Adriano Paskulin; A Perla; L Barea; Matthias R Baumgartner; Maria Fernanda Dantas; Brian Fowler; R Giugliani; C Vargas; M Wajner; Carla Graziadio
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler; David Valle; Matthias R Baumgartner
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Tolunay Baykal; Gulden Huner Gokcay; Zeynep Ince; Maria Fernanda Dantas; Brian Fowler; Matthias R Baumgartner; Fikri Demir; Gulay Can; Mübeccel Demirkol
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.

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All Publications

2006: L Pinto; Paulo R G Zen; R Rosa; Giorgio Adriano Paskulin; A Perla; L Barea; Matthias R Baumgartner; Maria Fernanda Dantas; Brian Fowler; R Giugliani; C Vargas; M Wajner; Carla Graziadio
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Journal of inherited metabolic disease 2006;29(1):205-6.
2005: Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler; David Valle; Matthias R Baumgartner
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Human mutation 2005;26(2):164.
2005: Tolunay Baykal; Gulden Huner Gokcay; Zeynep Ince; Maria Fernanda Dantas; Brian Fowler; Matthias R Baumgartner; Fikri Demir; Gulay Can; Mübeccel Demirkol
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Journal of inherited metabolic disease 2005;28(2):229-33.
2004: Matthias R Baumgartner; Maria Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F Hoffmann; E Regula Baumgartner; David Valle
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
American journal of human genetics 2004;75(5):790-800.

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