Sandrine Marie

Low lactate dehydrogenase and high mitochondrial glycerol phosphate dehydrogenase in pancreatic beta-cells. Potential role in nutrient sensing.

N. Sekine, Vincenzo Cirulli, Romano Regazzi et al. · Journal of Biological Chemistry · 1994 · 447 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC

Sandrine Marie, Bénédicte Héron, Pierre Bitoun et al. · The American Journal of Human Genetics · 2004 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

The pyruvate kinase gene as a model for studies of glucose-dependent regulation of gene expression in the endocrine pancreatic beta-cell type.

Sandrine Marie, Lucile Miquerol, A Kahn et al. · Journal of Biological Chemistry · 1993 · 127 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Medicine, Child Health, Pediatrics +14