A prevalent mutation for galactosemia among black Americans von Lai, Kent, Langley, S.D., Singh, R.H., Dembure, P.P., Hjelm, L.N., Elsas, L.J.

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A common mutation associated with the duarte galactosemia allele von ELSAS, L. J, DEMBURE, P. P, LANGLEY, S, PAULK, E. M, HJELM, L. N, FRIDOVICH-KEIL, J

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Molecular basis for Duarte and Los Angeles variant galactosemia von LANGLEY, S. D, LAI, K, DEMBURE, P. P, HJELM, L. N, ELSAS, L. J

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes von Elsas, L J, Langley, S, Steele, E, Evinger, J, Fridovich-Keil, J L, Brown, A, Singh, R, Fernhoff, P, Hjelm, L N, Dembure, P P

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Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid von Steen, M. T., Boddie, A. M., Fisher, A. J., MacMahon, W., Saxe, D., Sullivan, K. M., Dembure, P. P., Elsas, L. J.

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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency von Scaglia, F, Wang, Y, Singh, R H, Dembure, P P, Pasquali, M, Fernhoff, P M, Longo, N

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The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts von Lai, Kent, Langley, Sharon D., Dembure, Philip P., Hjelm, Lawrence N., Elsas II, Louis J.

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Urinary Pyridinium Cross-Links: A Noninvasive Diagnostic Test for Ehlers-Danlos Syndrome Type VI von Pasquali, Marzia, Dembure, Philip P, Still, Maria J, Elsas, Louis J

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Cystathionine-β-synthase deficiency : Detection of heterozygotes by the ratios of homocysteine to cysteine and folate von BODDIE, A. M, STEEN, M. T, SULLIVAN, K. M, PASQUALI, M, DEMBURE, P. P, COATES, R. J, ELSAS, L. J

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A molecular approach to galactosemia von Elsas, 2nd, L J, Langley, S, Paulk, E M, Hjelm, L N, Dembure, P P

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Pyridinium cross-links in heritable disorders of collagen von Pasquali, N, Still, M J, Dembure, P P, Elsas, L J

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Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria: a model for the study of phenylalanine and brain function in m... von KRAUSE, W, HALMINSKI, M, MCDONALD, L, DEMBURE, P, SALVO, R, FREIDES, D, ELSAS, L

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Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family von Fridovich-Keil, J L, Langley, S D, Mazur, L A, Lennon, J C, Dembure, P P, Elsas, 2nd, J L

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Thiamine response in maple syrup urine disease von FERNHOFF, P. M, LUBITZ, D, DANNER, D. J, DEMBURE, P. P, SCHWARTZ, H. P, HILLMAN, R, BIER, D. M, ELSAS, L. J

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Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI von Dembure, Philip P., Janko, Anita R., Priest, Jean H., Elsas, Louis J.

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Selective urinary screening for mucopolysaccharidoses von Dembure, Philip P., Drumheller, Jean E., Barr, Sidney M., Elsas, Louis J.

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Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI von Dembure, P P, Priest, J H, Snoddy, S C, Elsas, L J

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A [ 3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase von Glass, David B., Dembure, Philip P., Priest, Jean H., Elsas, Louis J.

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Clinical and biochemical analysis of two families with type I and type II mannosidosis von Bennet, J. K., Dembure, P. P., Elsas II, L. J.

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Autonomous Synthesis of α and β Hemoglobin Chains in Rabbit Erythroid Cells von Dembure, P.P., Garrick, M.D.

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