Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) von Rosenblatt, D. S., Aspler, A. L., Shevell, M. I., Pletcher, B. A., Fenton, W. A., Seashore, M. R.

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Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card von Wood, John C, Magera, Mark J, Rinaldo, Piero, Seashore, Margretta Reed, Strauss, Arnold W, Friedman, Alan

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Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors von Wappner, Rebecca, Cho, Sechin, Kronmal, Richard A, Schuett, Virginia, Seashore, Margretta Reed

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Glucose transporter type 1 deficiency : a study of two cases with video-EEG von BOLES, R. G, SEASHORE, M. R, MITCHELL, W. G, KOLLROS, P. R, MOFIDI, S, NOVOTNY, E. J

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New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry von Albers, S., Waisbren, S. E., Ampola, M. G., Brewster, T. G., Burke, L. W., Demmer, L. A., Filiano, J., Greenstein, R. M. G., Ingham, C. L., Korson, M. S., Marsden, D., Schwartz, R. C., Seashore, M. R., Shih, V. E., Levy, H. L.

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders von Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar

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HUMAN DERMATOSPARAXIS - A FORM OF EHLERS-DANLOS SYNDROME THAT RESULTS FROM FAILURE TO REMOVE THE AMINO-TERMINAL PROPEPTIDE OF TYPE-I PROCOLLAGEN von SMITH, LT, WERTELECKI, W, MILSTONE, LM, PETTY, EM, SEASHORE, MR, BRAVERMAN, IM, JENKINS, TG, BYERS, PH

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Development of Guidelines for Treatment of Children With Phenylketonuria: Report of a Meeting at the National Institute of Child Health and Human Development Held August 15, 1995,... von Seashore, Margretta Reed, Wappner, Rebecca, Cho, Sechin, de la Cruz, Felix

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Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects von SEASHORE, J. H, COLLINS, F. S, MARKOWITZ, R. I, SEASHORE, M. R

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In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy von NOVOTNY, E. J, AVISON, M. J, HERSCHKOWITZ, N, PETROFF, O. A. C, PRICHARD, J. W, SEASHORE, M. R, ROTHMAN, D. L

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Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines von AAP Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health

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Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction von Seashore, Margretta R, Friedman, Estelle, Novelly, Robert A, Bapat, Vijaya

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Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases von Hayasaka, Kiyoshi, Tada, Keiya, Fuekl, Noboru, Nakamura, Yasuhide, Nyhan, William L., Schmidt, Kathleen, Packman, Seymour, Seashore, Margaretta R., Haan, Eric, Danks, David M., Schutgens, R.B.H.

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Health Supervision for Children With Achondroplasia von Seashore, Margretta R, Cho, Sechin, Desposito, Franklin, Sherman, Jack

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Fifty families with abdominal aortic aneurysms in two or more first-order relatives von Tilson, M.David, Seashore, Margretta R.

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Health Supervision for Children With Down Syndrome von Sherman, Jack, Wappner, Rebecca S, Wilson, Miriam G, Seashore, Margretta R

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Health supervision for children with Turner syndrome von Seashore, Margretta R, Cho, Sechin, Desposito, Franklin, Sherman, Jack

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Health Supervision for Children With Neurofibromatosis von Committee on Genetics, 1994 to 1995

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Fetal alcohol syndrome and fetal alcohol effects von Schydlower, Manuel, Fuller, Paul G, Heyman, Richard B, Jacobs, Edward A

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium von Seminara, J, Tuchman, M, Krivitzky, L, Krischer, J, Lee, H S, Lemons, C, Baumgartner, M R, Cederbaum, S, Diaz, G A, Feigenbaum, A, Gallagher, R C, Harding, O, Kerr, D S, Lanpher, B, Lee, B, Lichter-Konecki, U, McCandless, E, Merritt, J L, Oster-Granite, M L, Seashore, M R, Stricker, T, Summar, M, Waisbren, S, Yudkoff, M, Batshaw, M L

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