Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy
Roe, C R, Yang, B-Z, Brunengraber, H, Roe, D S, Wallace, M, Garritson, B K
Published in Neurology (22.07.2008)
Published in Neurology (22.07.2008)
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Journal Article
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
CHACE, D. H, MILLINGTON, D. S, TERADA, N, KAHLER, S. G, ROE, C. R, HOFMAN, L. F
Published in Clinical chemistry (Baltimore, Md.) (1993)
Published in Clinical chemistry (Baltimore, Md.) (1993)
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Journal Article
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
Chace, DH, Hillman, SL, Millington, DS, Kahler, SG, Roe, CR, Naylor, EW
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
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Conference Proceeding
Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
Iafolla, A.Kimberly, Thompson, Robert J., Roe, Charles R.
Published in The Journal of pediatrics (01.03.1994)
Published in The Journal of pediatrics (01.03.1994)
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Journal Article
2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D
Published in Pediatric research (01.06.2000)
Published in Pediatric research (01.06.2000)
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Journal Article
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency
NUOFFER, J.-M, DE LONLAY, P, COSTA, C, ROE, C. R, CHAMOLES, N, BRIVET, M, SAUDUBRAY, J. M
Published in European journal of pediatrics (01.01.2000)
Published in European journal of pediatrics (01.01.2000)
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Journal Article
Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene
Andresen, Brage Storstein, Bross, Peter, Vianey-Saban, Christine, Divry, Priscille, Zabot, Marie-Thérèse, Roe, Charles R., Nada, Mohamed A., Byskov, Annette, Kruse, Torben A., Neve, Søren, Kristiansen, Karsten, Knudsen, Inga, Corydon, Morten Juhl, Gregersen, Niels
Published in Human molecular genetics (01.04.1996)
Published in Human molecular genetics (01.04.1996)
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Journal Article
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : diagnosis by acylcarnitine analysis in blood
VAN HOVE, J. L. K, WEN ZHANG, KAHLER, S. G, ROE, C. R, YUAN-TSONG CHEN, TERADA, N, CHACE, D. H, IAFOLLA, A. K, JIA-HUAN DING, MILLINGTON, D. S
Published in American journal of human genetics (01.05.1993)
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Published in American journal of human genetics (01.05.1993)
Journal Article
Short‐chain acyl‐CoA dehydrogenase deficiency in a 16‐year‐old girl with severe muscle wasting and scoliosis
Baerlocher, K. E., Steinmann, B., Aguzzi, A., Krähenbühl, S., Roe, C. R., Vianey‐Saban, C.
Published in Journal of inherited metabolic disease (01.07.1997)
Published in Journal of inherited metabolic disease (01.07.1997)
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Journal Article
Conference Proceeding
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
Andresen, B S, Vianey-Saban, C, Bross, P, Divry, P, Roe, C R, Nada, M A, Knudsen, I, Gregersen, N
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Journal Article
Hypoketotic Hypoglycemic Coma in a 21-Month-Old Child
Hostetler, Mark A, Arnold, Georgianne L, Mooney, Robert, Bennett, Michael J, Rinaldo, Piero, Roe, Charles R
Published in Annals of emergency medicine (01.09.1999)
Published in Annals of emergency medicine (01.09.1999)
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Conference Proceeding
2,4-dienoyl-coenzyme A reductase deficiency : a possible new disorder of fatty acid oxidation
ROE, C. R, MILINGTON, D. S, NORWOOD, D. L, KODO, N, SPRECHER, H, MOHAMMED, B. S, NADA, M, SCHULZ, H, MCVIE, R
Published in The Journal of clinical investigation (01.05.1990)
Published in The Journal of clinical investigation (01.05.1990)
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Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
Millington, David S., Norwood, Daniel L., Kodo, Naoki, Roe, Charles R., Inouet, Fumio
Published in Analytical biochemistry (01.08.1989)
Published in Analytical biochemistry (01.08.1989)
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