المؤلفون: Catarina A. Madeira, Carolina Anselmo, João M. Costa, Cátia A. Bonito, Ricardo J. Ferreira, Daniel J.V.A. Santos, Ronald Wanders, João B. Vicente, Fátima V. Ventura, Paula Leandro

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. :166766

مصطلحات موضوعية: Molecular Medicine, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fa9e9177c1d66367ecb1ff69e516d522Test
https://doi.org/10.1016/j.bbadis.2023.166766Test

المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani

المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

مصطلحات موضوعية: classification, ICIMD, inherited metabolic disorder, ontology

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000614037700017; volume:44; issue:1; firstpage:164; lastpage:177; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/854605Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101896221

الإتاحة: https://doi.org/10.1002/jimd.12348Test
http://hdl.handle.net/11588/854605Test

المؤلفون: van den Brink, Daan M., Brites, Pedro, Haasjes, Janet, Wierzbicki, Anthony S., Mitchell, John, Lambert-Hamill, Michelle, de Belleroche, Jacqueline, Jansen, Gerbert A., Waterham, Hans R., Ronald Wanders, J.A.

المصدر: The American Journal of Human Genetics ; volume 72, issue 2, page 471-477 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/346093Test
https://api.elsevier.com/content/article/PII:S0002929707605564?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707605564?httpAccept=text/plainTest

المؤلفون: Waterham, Hans R., Koster, Janet, Mooyer, Petra, Noort, Gerard van, Kelley, Richard I., Wilcox, William R., Ronald Wanders, J.A., Raoul Hennekam, C.M., Jan Oosterwijk, C.

المصدر: The American Journal of Human Genetics ; volume 72, issue 4, page 1013-1017 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/373938Test
https://api.elsevier.com/content/article/PII:S0002929707606223?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707606223?httpAccept=text/plainTest

المؤلفون: Ofman, Rob, Jos Ruiter, P.N., Feenstra, Marike, Duran, Marinus, Bwee Poll-The, Tien, Zschocke, Johannes, Ensenauer, Regina, Lehnert, Willy, Sass, Jörn Oliver, Sperl, Wolfgang, Ronald Wanders, J.A.

المصدر: The American Journal of Human Genetics ; volume 72, issue 5, page 1300-1307 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/375116Test
https://api.elsevier.com/content/article/PII:S0002929707606582?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707606582?httpAccept=text/plainTest

المؤلفون: Patrick, Aubourg, Ronald, Wanders

المصدر: Handbook of clinical neurology. 113

مصطلحات موضوعية: Male, Peroxisomal Disorders, Pregnancy, Prenatal Diagnosis, Humans, Female, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1b107becfc35e5370f931084f6a4599aTest
https://pubmed.ncbi.nlm.nih.gov/23622381Test

المؤلفون: Hadhami, Ben Turkia, Mohamed, Yangui, Hatem, Azzouz, Amal, Ben Chehida, Rim, Ben Abelaziz, Mohamed Slim, Abdelmoula, Fehmi, Nasrallah, Naziha, Kaabachi, Ronald, Wanders, Neji, Tebib, Marie Françoise, Ben Dridi

المصدر: La Tunisie medicale. 89(3)

مصطلحات موضوعية: Male, Mutation, Infant, Newborn, Humans, Membrane Proteins, Zellweger Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::971e547d0c81e0b2a7797a3359c6b8a3Test
https://pubmed.ncbi.nlm.nih.gov/21387236Test