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Marta Frigeni
Marta Frigeni
University of Utah
Primary Carnitine Deficiency
SLC22A5
Carnitine transport
Biochemistry
Carnitine
5
Papers
330
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Clinical and biochemical outcome with parenteral hydroxocobalamin mega-dosing in cobalamin C deficiency
2021
Molecular Genetics and Metabolism
Abigail Kacpura
Kathryn Gunther
Marta Frigeni
Laura S. Farach
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Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts
2019
Pharmacology Research & Perspectives
Kirill Gorshkov
Amy Q. Wang
Wei Sun
Ethan G. Fisher
Marta Frigeni
Marc Singleton
Natasha Thorne
Bradley Class
Wenwei Huang
Nicola Longo
Minh‐Ha T. Do
Elizabeth A. Ottinger
Xin Xu
Wei Zheng
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Functional and Molecular Studies in Primary Carnitine Deficiency
2017
Human Mutation
Marta Frigeni
Bijina Balakrishnan
Xue Yin
Fernanda R.O. Calderon
Rong Mao
Marzia Pasquali
Nicola Longo
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Citations (26)
Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.
2016
Biochimica et Biophysica Acta
Marta Frigeni
Francesco Iacobazzi
Xue Yin
Nicola Longo
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Carnitine transport and fatty acid oxidation.
2016
Biochimica et Biophysica Acta
Nicola Longo
Marta Frigeni
Marzia Pasquali
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Citations (294)
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