Zobrazeno 1 - 10
of 292
pro vyhledávání: '"Zater, M."'
Autor:
Imbard, A., Boutron, A., Vequaud, C., Zater, M., de Lonlay, P., Ogier de Baulny, H., Barnerias, C., Miné, M., Marsac, C., Saudubray, J.-M., Brivet, M.
Publikováno v:
In Molecular Genetics and Metabolism December 2011 104(4):507-516
Autor:
Boutron, A, Marabotti, Anna, Facchiano, A, Cheillan, D, Zater, M, Oliveira, C, Costa, C, Labrune, P, Brivet, M, Loisel, N, Morin, G, Barth, M, Altuzarra, C, Mesli, S, Rigalleau, V, Rhead, Mh, de Schrevel, G, Thauvin Robinet, C, Santos, A, Dobbelaere, D, Mention, K, Guffon, N, Cano, A, Feillet, F, Krempf, P, Pitelet, G, Bernard, O, Hermeziu, B, Gonzalez, E, Habes, D, Jacquemin, E, de Baulny, H, Roche, S, Debray, D, de Lonlay, P, Servais, A, Touati, G, Bednarek, N, Garnotel, R, Devaux, Am, Gay, C, Eyer, D, Baruteau, J, Broué, P, Labarthe, F, Maillot, F.
Publikováno v:
Molecular genetics and metabolism
info:cnr-pdr/source/autori:Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group/titolo:Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations./doi:10.1016%2Fj.ymgme.2012.07.025/rivista:Molecular genetics and metabolism (Print)/anno:2012/pagina_da:438/pagina_a:447/intervallo_pagine:438–447/volume:107
info:cnr-pdr/source/autori:Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group/titolo:Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations./doi:10.1016%2Fj.ymgme.2012.07.025/rivista:Molecular genetics and metabolism (Print)/anno:2012/pagina_da:438/pagina_a:447/intervallo_pagine:438–447/volume:107
Background Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism and high allelic heterogeneity of GALT gene. Aim To report molecular characteriza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8fac6d8fdf3574078f21cfffbde21c
http://www.cnr.it/prodotto/i/197052
http://www.cnr.it/prodotto/i/197052
Autor:
Barretto, Carolina Teles1 (AUTHOR), Nascimento, Márcia Helena Cassago2 (AUTHOR), Brun, Bruna Ferro3 (AUTHOR), da Silva, Tiago Barcelos3 (AUTHOR), Dias, Pedro Augusto Costa3 (AUTHOR), Silva, Cassiano Augusto Braga4 (AUTHOR), Singh, Maneesh N.5,6 (AUTHOR), Martin, Francis L.5,7 (AUTHOR), Filgueiras, Paulo Roberto2 (AUTHOR), Romão, Wanderson8 (AUTHOR), Campos, Luciene Cristina Gastalho1 (AUTHOR), Barauna, Valerio Garrone1,3,9 (AUTHOR) barauna2@gmail.com
Publikováno v:
Orphanet Journal of Rare Diseases. 10/10/2024, Vol. 19 Issue 1, p1-9. 9p.
Autor:
Vo, Ngoc Dong Nhi1 (AUTHOR) dongnhi.vo@med.uni-jena.de, Gaßler, Nikolaus2 (AUTHOR) nikolaus.gassler@med.uni-jena.de, Wolf, Gunter1 (AUTHOR) gunter.wolf@med.uni-jena.de, Loeffler, Ivonne1 (AUTHOR) ivonne.loeffler@med.uni-jena.de
Publikováno v:
International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p4805. 18p.
Autor:
Sharma, Nitesh Kumar1, Panda, Shasanka Shekhar1,2 drshasank_aiims@yahoo.co.in, Ratan, Simmi K.1, Neogi, Sujoy1, Goswami, Binita3, Kumar, Rakesh4
Publikováno v:
Journal of Indian Association of Pediatric Surgeons. May/Jun2024, Vol. 29 Issue 3, p204-212. 9p.
Akademický článek
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Akademický článek
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Autor:
Xin, Bin1,2 (AUTHOR), Chen, Haiming3 (AUTHOR), Liu, Tianyi1 (AUTHOR), Wu, Yue1,2 (AUTHOR), Hu, Qingyang1,2 (AUTHOR), Dong, Xue1,2 (AUTHOR), Li, Zhong1 (AUTHOR) lzong163@163.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-9. 9p.
Autor:
Lebigot E; Service de Biochimie, CHU Bicêtre, AP-HP, Le Kremlin-Bicêtre, France., Brassier A, Zater M, Imanci D, Feillet F, Thérond P, de Lonlay P, Boutron A
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Sep; Vol. 38 (5), pp. 881-7. Date of Electronic Publication: 2015 Jan 20.
Autor:
Lacombe C; Université de Reims Champagne-Ardenne, Equipe MéDIAN, Biophotonique et Technologies pour la Santé, UFR de Pharmacie, 51 rue Cognacq-Jay, 51096 Reims, France. caroline_lacombe@hotmail.fr valerie.untereiner@univ-reims.fr cyril.gobinet@univ-reims.fr ganesh.sockalingum@univ-reims.fr., Untereiner V, Gobinet C, Zater M, Sockalingum GD, Garnotel R
Publikováno v:
The Analyst [Analyst] 2015 Apr 07; Vol. 140 (7), pp. 2280-6.