Zobrazeno 1 - 10
of 186
pro vyhledávání: '"Ogier De Baulny, H."'
Autor:
Gérard, M., Morin, G., Bourillon, A., Colson, C., Mathieu, S., Rabier, D., Billette de Villemeur, T., Ogier de Baulny, H., Benoist, J.F.
Publikováno v:
In European Journal of Medical Genetics March 2015 58(3):148-153
Autor:
Schiff, M., Ogier de Baulny, H.
Publikováno v:
In Archives de pédiatrie May 2013 20(5) Supplement 1:H180-H182
Publikováno v:
In EMC – Pediatría September 2012 47(3):1-9
Autor:
Abadie, V. *, Berthelot, J., Feillet, F., Maurin, N., Mercier, A., Ogier de Baulny, H., de Parscau, L.
Publikováno v:
In Archives de pédiatrie 2005 12(5):594-601
Publikováno v:
In EMC-Pediatrie 2005 2(1):151-161
Publikováno v:
In EMC – Pediatría 2005 40(2):1-7
Autor:
Ogier de Baulny, H., Saudubray, J.M.
Publikováno v:
In Seminars in Neonatology February 2002 7(1):65-74
Autor:
de Lonlay, P *, Fenneteau, O, Touati, G, Mignot, C, Billette de Villemeur, T, Rabier, D, Blanche, S, Ogier de Baulny, H, Saudubray, J.M
Publikováno v:
In Archives de pédiatrie 2002 9(8):822-835
Autor:
Ozturk, YEŞİM, Niinikoski, H., Bonnemains, C., Marioli, S., Barat, P., De Parscau, L., Meyer, M., Bedu, A., Güttler, F., Pazdirkova, R., Prochazkova, D., Sarnavka, V., Baric, I., Toromanovic, A., Tahirovic, H., Scholl-Bürgi, S., Karall, D., Van Spronsen, F.J., Trefz, Friedrich K., Giovannini, Marcello, Feillet, François, Demirkol, M., Bélanger-Quintana, A., Blau, Nenad, Aydin, H., Coskun, T., Dursun, A., Kalkanoglu, S.H.S., Tokatli, A., Eminoglu, F.T., Hasanoglu, A., Baumgartner, M., Onenli-Mungan, N., Yüksel, B., Gil-Ortega, D., Odent, S., Eyer, D., Labarthe, F., Hennermann, J.B., Mönch, E., Stolz, S., Spiekerkötter, U., Knerr, I., Schwab, K.O., Kreuder, J., Ullrich, K., Das, A.M., Burgard, P., Kon-Stantopoulou, V., Lindner, M., Müller, E., Haase, C., Beblo, S., Weigel, J., Plötzch, S., Muntau, A., Weglage, J., Marquardt, J., Scheible, D., Clemens, P., Schulpis, K.H., Papadia, F., Salardi, S., Meli, C., Donati, M.A., Procopio, E., Cerone, R., Riva, E., Giovannini, M., Paci, S., Carbone, M.T., Burlina, A., Lapichino, L., Cotugno, G., Leuzzi, V., Rubio-Gozalbo, E., De Vries, M., De Klerk, J.B.C., Walter, J., Cleary, M.A., Schwann, B., Robinson, P., Galloway, P., Hendriksz, C.J., Iversen, K., Wiig, I., Jørgensen, J., Milanowski, A., Nowacka, M., Djordjevic, M., Laketa, C., Gutiérrez-Junquera, C., Márquez-Armenteros, A., Vilaseca Busca, M.A., Campistol Plana, J., Peña-Quintana, L., Valverde, F.S., Gonzalez-Lamuno, D., Couce-Pico, M.L., Dalmau Serra, J., Baldellou-Vazquez, A., Garcia-Jimenez, M.C., Papadopoulou, D., Almm, J., Okur, I., Süheyl, E.F., Tumer, L., Aydogdu, S., Aktuglu-Zeybek, A.C., Cansever, S., Arslan, N., Erdur, B., Coker, M., Kalkan, U.S., Hizel-Bülbül, S., Tanzer, F., MacDonald, Anita, MacDonald, A., Chakrapani, A., Gomez, A.R., Fouilhoux, A., Chabrol, B., Wagner, K., Billette De Villemeur, T., De Lonlay-Debeney, P., Ogier De Baulny, H., Halldin Stenlid, M., Nuoffer, J.M., Rohrbach, M.
Publikováno v:
Molecular Genetics and Metabolism, 99(2), 109-115. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 99(2), 109-115. Academic Press Inc.
Molecular Genetics and Metabolism, 99(2), 109-115. Academic Press Inc.
To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professional
Autor:
Cécile Acquaviva, Ogier de Baulny H, Nathalie Guffon, Jacques Elion, Guy Touati, Aydin A, Dominique Porquet, Jean-François Benoist, Isabelle Callebaut
Publikováno v:
European Journal of Human Genetics. 9:577-582
Mutations in the MUT locus encoding for the methylmalonyl-CoA mutase (MCM) apoenzyme are responsible for the mut forms of methylmalonic acidemia (MMA). To date, 49 different mutations have been identified in mut MMA. Only two frequent mutations have