换一批
换一批The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
作者：
Koelker, Stefan [1]
;
Valayannopoulos, Vassili [2]
;
Burlina, Alberto B. [3]
;
Sykut-Cegielska, Jolanta [4]
;
Wijburg, Frits A. [5]
;
Teles, Elisa Leao [6]
;
Zeman, Jiri [7]
;
Dionisi-Vici, Carlo [8]
;
Baric, Ivo [9]
;
Karall, Daniela [10]
;
Arnoux, Jean-Baptiste [11]
;
Avram, Paula [12]
;
Baumgartner, Matthias R. [13]
;
Blasco-Alonso, Javier [14]
;
Boy, S. P. Nikolas [15]
;
Rasmussen, Marlene Bogehus [16]
;
Burgard, Peter [17]
;
Chabrol, Brigitte [18]
;
Chakrapani, Anupam [19]
;
Chapman, Kimberly [20]
;
Cortes i Saladelafont, Elisenda [21]
;
Couce, Maria L. [22]
;
de Meirleir, Linda [23]
;
Dobbelaere, Dries [24]
;
Furlan, Francesca [25]
;
Gleich, Florian [26]
;
Julieta Gonzalez, Maria [27]
;
Gradowska, Wanda [28]
;
Gruenewald, Stephanie [29]
;
Honzik, Tomas [30]
;
Hoerster, Friederike [31]
;
Ioannou, Hariklea [32]
;
Jalan, Anil [33]
;
Haeberle, Johannes [34]
;
Haege, Gisela [35]
;
Langereis, Eveline [36]
;
de Lonlay, Pascale ;
Martinelli, Diego ;
Matsumoto, Shirou ;
Muehlhausen, Chris ;
Murphy, Elaine ;
de Baulny, Helene Ogier ;
Ortez, Carlos ;
Pedron, Consuelo C. ;
Pintos-Morell, Guillem ;
Pena-Quintana, Luis ;
Ramadza, Danijela Petkovic ;
Rodrigues, Esmeralda ;
Scholl-Buergi, Sabine ;
Sokal, Etienne ;
Summar, Marshall L. ;
Thompson, Nicholas ;
Vara, Roshni ;
Vives Pinera, Inmaculada ;
Walter, John H. ;
Williams, Monique ;
Lund, Allan M. ;
Garcia Cazorla, Angeles
作者单位：
Hop Jeanne de Flandre, Ctr Reference Malad Hereditaires Metab Enfant & A, Lille, France
[1]
Univ Klinikum Hamburg Eppendorf, Klin Kinder & Jugendmed, Hamburg, Germany
[2]
ISCIII, Serv Neurol, Hosp San Joan de Deu, Barcelona, Spain
[3]
Kumamoto Univ Hosp, Dept Pediat, Kumamoto, Japan
[4]
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
[5]
Childrens Mem Hlth Inst, Dept Lab Diagnost, Warsaw, Poland
[6]
Hosp Virgen Arrixaca Murcia, Inborn Metab Dis Unit, El Palmar, Spain
[7]
Med Univ Innsbruck, Clin Pediat 1, Inherited Metab Disorders, A-6020 Innsbruck, Austria
[8]
Univ Manchester, Manchester Acad Hlth Sci Ctr, Willink Biochem Genet Unit, Genet Med, Manchester
[9]
EPE, Hosp S Joao, Serv Pediat, Unidade Doencas Metab, Oporto, Portugal
[10]
Inst Mother & Child Hlth, Screening Dept, Warsaw, Poland
[11]
Hosp Clinico Univ Santiago de Compostela, Dept Pediat, Metab Unit, Santiago De Compostela, Spain
[12]
Univ Paris, Hop Robert Debre, F-75252 Paris, France
[13]
CHU Timone, Hop Enfants, Serv Neurol, Ctr Reference Malad Hereditaires Metab, Marseilles, France
[14]
Charles Univ Prague, Fac Med 1, Prague, Czech Republic
[15]
Hosp Maternoinfantil HRU Carlos Haya, Malaga, Spain
[16]
Univ Hosp Ctr Zagreb, Sch Med, Zagreb, Croatia
[17]
St Thomas Hosp, Evelina Childrens Hosp, London, England
[18]
Childrens Natl Med Ctr, Washington, DC 20010 USA
[19]
Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, Copenhagen, Denmark
[20]
Univ Hosp Vrije Univ Brussel, Brussels, Belgium
[21]
Hosp Badalona Germans Trias & Pujol, Dept Pediat, Badalona, Spain
[22]
Univ Hosp Ctr Zagreb, Zagreb, Croatia
[23]
Birmingham Childrens Hosp NHS Fdn Trust, Birmingham B4 6NH, W Midlands, England
[24]
Necker Enfants Malad Univ Hosp, Reference Ctr Inherited Metab Dis, Hop Necker Enfants Malad, AP HP
[25]
Inst Mother & Child Care Alfred Rusescu, Bucharest, Romania
[26]
UOC Patol Metab, Osped Pediat Bambino Gesu, Rome, Italy
[27]
NIRMAN, Om Rachna Soc, Bombay, Maharashtra, India
[28]
UCL, Great Ormond St Hosp, Metab Unit, London, England
[29]
Gen Hosp Thessaloniki Hippocration, Metab Lab, Dept Pediat 1, Thessaloniki, Greece
[30]
Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London WC1N 3BG, England
[31]
UOC Malattie Metab Ereditarie, Azienda Osped Padova, Padua, Italy
[32]
Univ Childrens Hosp Heidelberg, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg
[33]
Hosp Infantil Univ Nino Jesus, Dept Pediat, Metab Dis Unit, Madrid, Spain
[34]
Univ Childrens Hosp Zurich, Div Metab, CH-8032 Zurich, Switzerland
[35]
Catholic Univ Louvain, Clin Univ St Luc, Serv Gastroenterol & Hepatol Pediat, B-1200 Brussels
[36]
发布时间
2016-01-18
- 浏览4
Journal of inherited metabolic disease
Journal of inherited metabolic disease
1059-1074页
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