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Glycobiology|June 1, 1994
Two different glycosyltransferase defects that result in GalNAc alpha-O-peptide (Tn) expressionM J King, A Chan, R Roe, et al.
Molecular Genetics and Metabolism|May 15, 2001
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single familyB Z Yang, J M Mallory, D S Roe, et al.
The Journal of Pediatrics|August 1, 1989
Parenteral nutrition in propionic and methylmalonic acidemiaS G Kahler, D S Millington, S D Cederbaum, et al.
Neurology|November 1, 1990
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adultR B Bell, A K Brownell, C R Roe, et al.
Biochemical and Biophysical Research Communications|August 31, 1990
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyY Matsubara, K Narisawa, S Miyabayashi, et al.
Scientific Reports|March 1, 2023
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)Ignacio Málaga, Adrian Avila, Sharon Primeaux, et al.
Pediatric Research|January 7, 2000
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancyA M Innes, L E Seargeant, K Balachandra, et al.
Cancer Research|October 15, 1992
The effect of an amino acid-lowering diet on the rate of melphalan entry into brain and xenotransplanted gliomaD R Groothuis, B E Lippitz, I Fekete, et al.
Prenatal Diagnosis|February 1, 1996
Prenatal diagnosis of mitochondrial fatty acid oxidation defectsM A Nada, C Vianey-Saban, C R Roe, et al.
Human Molecular Genetics|March 1, 1997
Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic miceJ Winograd, M P Reilly, R Roe, et al.
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