Results 111 to 120 of about 4,798 (243)

Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

International Journal of Neonatal Screening
We thank the authors for their comments [...]
Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout   +9 more
doaj   +1 more source

Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone [PDF]

, 2013
Fatiha Bendadi, Tom J. de Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. de Sain, Nanda M. Verhoeven‐Duif, Gerben Sinnema, Francjan J. van Spronsen, Peter M. van Hasselt   +8 more
openalex   +1 more source

Opportunities and costs of clinical research. [PDF]

, 1985
Gavaler, JS, Starzl, TE, Tarter, R, Van Thiel, DH   +3 more
core   +1 more source

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Lectin‐reactive α‐Fetoprotein in Patients with Tyrosinemia Type I and Hepatocellular Carcinoma

, 2006
Ulrich Baumann, Valeska Duhme, Marcus Auth, Patrick McKiernan, Elisabeth Holme   +4 more
openalex   +1 more source

TYROSINEMIA TYPE I. RESOLUTION OF THE METABOLIC ABNORMALITIES AND INCREASED GROWTH FOLLOWING LIVER TRANSPLANTATION. [PDF]

, 1993
Silvia R Moyano Caturelli, Adriana Fraga, Titania Pascualini, Susana Ruiz, Néstor Chamoles, Daniel D’Agostino   +5 more
openalex   +1 more source

Evolution of Liver Transplantation [PDF]

, 1982
Abouna, Alper, Alper, Andres, Aune, Bechtelsheimer, Benichou, Berman, Birtch, Birtch, Borel, Borel, Brettschneider, Brölsch, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Cannon, Carpenter, Corman, Craig, Daloze, Demirleau, Noureddine, Vignes, Dubois, Fennell, Fisch, Fonkalsrud, Fortner, Fortner, Franksson, Fulginiti, Gamier, Gips, Green, Groth, Groth, Groth, Herbertson, Hood, Houssin, Houssin, Hume, Hume, Hunt, Iwatsuki, Iwatsuki, Iwatsuki, Johnson, Kahan, Kashiwagi, Keown, Klintmalm, Klintmalm, Kostakis, Lampe, Lie, Limmer, Machado, Marchioro, Martineau, McDonald, Mikaeloff, Mikaeloff, Moore, Moore, Murray, Murray, Murray, Myburgh, Najarian, Neuberger, O'Donnell, Opelz, Orr, Pappas, Peacock, Penn, Picache, Pichlmayr, Porter, Portmann, Powles, Putnam, Raum, Rynasiewicz, Schroter, Schroter, Shaw, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Strober, Sweny, Terblanche, von Kaulla, Waddell, Wall, Williams, Wolff, Woodruff   +142 more
core   +1 more source

HEREDITARY TYROSINEMIA TYPE I

Journal of Pediatric Gastroenterology and Nutrition, 1991
F. J. van Spronsen, Y. Thomassen, R. Berger, G. P.A. Smit, H. S.A. Heymans   +4 more
openaire   +2 more sources

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I [PDF]

, 2009
Barbara W Adam, Timothy Lim, Elizabeth M Hall, W. Harry Hannon   +3 more
openalex   +1 more source

In Vivo Correction of Murine Tyrosinemia Type I by DNA-Mediated Transposition [PDF]

, 2002
Eugenio Montini, Patrice K. Held, Meenakshi Noll, Nicolas Morcinek, Muhsen Al-Dhalimy, Milton J. Finegold, Stephen R. Yant, Mark A. Kay, Markus Grompe   +8 more
openalex   +1 more source