Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card
Wood, J C, Magera, M J, Rinaldo, P, Seashore, M R, Strauss, A W, Friedman, A
Published in Pediatrics (Evanston) (01.07.2001)
Published in Pediatrics (Evanston) (01.07.2001)
Get more information
Journal Article
Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors
Wappner, R, Cho, S, Kronmal, R A, Schuett, V, Seashore, M R
Published in Pediatrics (Evanston) (01.12.1999)
Published in Pediatrics (Evanston) (01.12.1999)
Get more information
Journal Article
Glucose transporter type 1 deficiency : a study of two cases with video-EEG
BOLES, R. G, SEASHORE, M. R, MITCHELL, W. G, KOLLROS, P. R, MOFIDI, S, NOVOTNY, E. J
Published in European journal of pediatrics (01.12.1999)
Published in European journal of pediatrics (01.12.1999)
Get full text
Journal Article
New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
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.
Published in Journal of inherited metabolic disease (01.04.2001)
Published in Journal of inherited metabolic disease (01.04.2001)
Get full text
Journal Article
Conference Proceeding
Human dermatosparaxis : a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen
SMITH, L. T, WERTELECKI, W, MILSTONE, L. M, PETTY, E. M, SEASHORE, M. R, BRAVERMAN, I. M, JENKINS, T. G, BYERS, P. H
Published in American journal of human genetics (01.08.1992)
Get full text
Published in American journal of human genetics (01.08.1992)
Journal Article
Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects
Seashore, J H, Collins, F S, Markowitz, R I, Seashore, M R
Published in Pediatrics (Evanston) (01.10.1987)
Published in Pediatrics (Evanston) (01.10.1987)
Get more information
Journal Article
Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases
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.
Published in The Journal of pediatrics (01.06.1987)
Published in The Journal of pediatrics (01.06.1987)
Get full text
Journal Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
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
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
Get full text
Journal Article