المؤلفون: Mudd, S. H., Cerone, R., Schiaffino, M. C., Fantasia, A. R., Minniti, G., Caruso, U., Lorini, R., Watkins, D., Matiaszuk, N., Rosenblatt, D. S., Schwahn, B., Rozen, R., LeGros, L., Kotb, M., Capdevila, A., Luka, Z., Finkelstein, J. D., Tangerman, A., Stabler, S. P., Allen, R. H., Wagner, C.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. July 2001 24(4):448-464

المؤلفون: Cerone, R., Schiaffino, M. C., Caruso, U., Lupino, S., Gatti, R.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 1999 22(3):247-250

المؤلفون: Faraci, M, Cuzzubbo, D, Micalizzi, C, Lanino, E, Morreale, G, Dallorso, S, Castagnola, E, Schiaffino, M C, Bruno, C, Rossi, A, Dini, G, Cappelli, B

المصدر: Bone Marrow Transplantation: Official journal of the European Society for Blood and Marrow Transplantation. 39(9):563-565

المؤلفون: Caruso, U., Lupino, S., Schiaffino, M. C., Romano, C.

المصدر: Chromatographia. December 1993 36(1):212-214

المؤلفون: Schiaffino, M. C., Fantasia, A. R., Minniti, G., Caruso, U., Carnevale, F., Cerone, R.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 2004 27(1):101-102

المؤلفون: Cerone R., Fantasia A. R., Schiaffino M. C., Maritano L., Romano C.

المصدر: Pteridines, Vol 3, Iss 1-2, Pp 23-24 (1991)

مصطلحات موضوعية: Crystallography, QD901-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

URL الوصول: https://doaj.org/article/f5a9b2a0c65c4865b0fa75b8c5661ede

المؤلفون: Cerone, R., Fantasia, A. R, Castellano, E., Moresco, L., Schiaffino, M. C., Gatti, R.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. June 2002 25(4):317-318

المؤلفون: Caruso, U.^Aff1, Cerone, R.^Aff1, Fantasia, A. R.^Aff1, Schiaffino, M. C.^Aff1, Zignego, G.^Aff1, Romano, C.^Aff1

المساهمون: Addison, G. M., editor, Connor, J. M., editor, Harkness, R. A., editor, Pollitt, R. J., editor

المصدر: Studies in Inherited Metabolic Disease : Prenatal and Perinatal Diagnosis. :311-314

المؤلفون: Cerone, R.^Aff1, Scalisi, S.^Aff1, Cotellessa, M.^Aff1, Schiaffino, M. C.^Aff1, Caruso, U.^Aff1, Romano, C.^Aff1

المساهمون: Addison, G. M., editor, Harkness, R. A., editor, Isherwood, D. M., editor, Pollitt, R. J., editor

المصدر: Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia : Proceedings of the 23rd Annual Symposium of the SSIEM, Liverpool, September 1985. :244-246

المؤلفون: Rüetschi, Ulla, 1962, Cerone, R, Pérez-Cerda, C, Schiaffino, M C, Standing, S, Ugarte, M, Holme, Elisabeth, 1947

المصدر: Human genetics. 106(6):654-62

مصطلحات موضوعية: Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy), Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci), 4-Hydroxyphenylpyruvate Dioxygenase, genetics, metabolism, Adolescent, Amino Acid Substitution, Binding Sites, Child, DNA Mutational Analysis, Exons, Female, Homozygote, Humans, Infant, Introns, Kidney, enzymology, Liver, Male, Mutation, Missense, Polymerase Chain Reaction, Restriction Mapping, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Tyrosine, blood, Tyrosinemias, diagnosis

URL الوصول: https://gup.ub.gu.se/publication/85732