RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions von Girirajan, S, Elsas, L J, Devriendt, K, Elsea, S H

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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy von Wallace, Douglas C., Singh, Gurparkash, Lott, Marie T., Hodge, Judy A., Schurr, Theodore G., Angela M. S. Lezza, Elsas, Louis J., Nikoskelainen, Eeva K.

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene von Tyfield, Linda, Reichardt, Juergen, Fridovich-Keil, Judy, Croke, David T., Elsas II, Louis J., Strobl, Wolfgang, Kozak, Libor, Coskun, Turgay, Novelli, Giuseppe, Okano, Yoshiyuki, Zekanowski, Cezary, Shin, Yoon, Boleda, Ma Dolores

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Galactose toxicity in animals von Lai, Kent, Elsas, Louis J., Wierenga, Klaas 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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Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population von EISENSMITH, R. C, MARTINEZ, D. R, KUZMIN, A. I, GOLTSOV, A. A, BROWN, A, RANI SINGH, ELSAS, L. J, WOO, S. L. C

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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency von Matsubara, Yoichi, Narisawa, Kuniaki, Miyabayashi, Shigeaki, Tada, Keiya, Coates, Paul M., Bachmann, Claude, Elsas, Louis J., Pollitt, Rodney J., Rhead, William J., Roe, Charles R.

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Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype von Kruger, W.D., Wang, L., Jhee, K.H., Singh, R.H., Elsas II, L.J.

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells von Lai, K., Langley, S.D., Khwaja, F.W., Schmitt, E.W., Elsas, L.J.

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Risk factors for premature ovarian failure in females with galactosemia von Guerrero, Nicole V., Singh, Rani H., Manatunga, Amita, Berry, Gerard T., Steiner, Robert D., Elsas II, Louis J.

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Overexpression of Human UDP-Glucose Pyrophosphorylase Rescues Galactose-1-Phosphate Uridyltransferase-Deficient Yeast von Lai, Kent, Elsas, Louis J.

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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN) von Pass, Kenneth A., Lane, Peter A., Fernhoff, Paul M., Hinton, Cynthia F., Panny, Susan R., Parks, John S., Pelias, Mary Z., Rhead, William J., Ross, Sonya I., Wethers, Doris L., Elsas, Louis J.

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The molecular biology of galactosemia von Elsas, 2nd, L J, Lai, K

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The history of the SIMD: From small molecules to metabolomics von Elsas, Louis J.

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A structure–function study of MID1 mutations associated with a mild Opitz phenotype von Mnayer, Laila, Khuri, Sawsan, Al-Ali Merheby, Hassan, Meroni, Germana, Elsas, Louis J.

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Verbal dyspraxia and galactosemia von WEBB, Amy Leigh, SINGH, Rani H, KENNEDY, Mary Jane, ELSAS, Louis J

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Cessation of enzyme replacement therapy in Gaucher disease von Grinzaid, Karen A, Geller, Eleanor, Hanna, Soheil L, Elsas, 2nd, Louis J

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Structure-Function Analyses of a Common Mutation in Blacks with Transferase-Deficiency Galactosemia von Lai, Kent, Elsas, Louis J.

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Evidence that microdeletions in the α globin gene protect against the development of sickle cell glomerulopathy in humans von GUASCH, A, ZAYAS, C. F, ECKMAN, J. R, MURALIDHARAN, K, WEI ZHANG, ELSAS, L. J

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Prevention of a molecular misdiagnosis in galactosemia von Barbouth, Deborah, Slepak, Tatiana, Klapper, Helene, Lai, Kent, Elsas, Louis J

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