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Stephanie A. Newton
Stephanie A. Newton
Boston Children's Hospital
Genetics
Medicine
Neuroleptic malignant syndrome
Glutaric aciduria
Hypoxic Ischemic Encephalopathy
3
Papers
57
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CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
2015
Alcy Torres
Stephanie A. Newton
Brian D. Crompton
Arturo Borzutzky
E. J. Neufeld
Luigi D. Notarangelo
Gerard T. Berry
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Citations (17)
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
2014
European Journal of Human Genetics
Mugdha Joshi
Jacqueline Eagan
Nirav K. Desai
Stephanie A. Newton
Meghan C. Towne
Nicholas S. Marinakis
Kristyn M. Esteves
Sarah D. de Ferranti
Michael Bennett
Adam McIntyre
Alan H. Beggs
Gerard T. Berry
Pankaj B. Agrawal
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Citations (27)
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