The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
第一作者:
Koelker, Stefan
作者:
Koelker, Stefan [1]
;
Garcia Cazorla, Angeles [2]
;
Valayannopoulos, Vassili [3]
;
Lund, Allan M. [4]
;
Burlina, Alberto B. [5]
;
Sykut-Cegielska, Jolanta [6]
;
Wijburg, Frits A. [7]
;
Teles, Elisa Leao [8]
;
Zeman, Jiri [9]
;
Dionisi-Vici, Carlo [10]
;
Baric, Ivo [11]
;
Karall, Daniela [12]
;
Augoustides-Savvopoulou, Persephone [13]
;
Aksglaede, Lise [14]
;
Arnoux, Jean-Baptiste [15]
;
Avram, Paula [16]
;
Baumgartner, Matthias R. [17]
;
Blasco-Alonso, Javier [18]
;
Chabrol, Brigitte [19]
;
Chakrapani, Anupam [20]
;
Chapman, Kimberly [21]
;
Cortes i Saladelafont, Elisenda [22]
;
Couce, Maria L. [23]
;
de Meirleir, Linda [24]
;
Dobbelaere, Dries [25]
;
Dvorakova, Veronika [26]
;
Furlan, Francesca [27]
;
Gleich, Florian [28]
;
Gradowska, Wanda [29]
;
Gruenewald, Stephanie [30]
;
Jalan, Anil [31]
;
Haeberle, Johannes [32]
;
Haege, Gisela [33]
;
Lachmann, Robin [34]
;
Laemmle, Alexander [35]
;
Langereis, Eveline [36]
;
de Lonlay, Pascale ;
Martinelli, Diego ;
Matsumoto, Shirou ;
Muehlhausen, Chris ;
de Baulny, Helene Ogier ;
Ortez, Carlos ;
Pena-Quintana, Luis ;
Ramadza, Danijela Petkovic ;
Rodrigues, Esmeralda ;
Scholl-Buergi, Sabine ;
Sokal, Etienne ;
Staufner, Christian ;
Summar, Marshall L. ;
Thompson, Nicholas ;
Vara, Roshni ;
Vives Pinera, Inmaculada ;
Walter, John H. ;
Williams, Monique ;
Burgard, Peter
作者单位:
Univ Klinikum Hamburg Eppendorf, Klin Kinder & Jugendmed, Hamburg, Germany
[1]
Hop Jeanne de Flandre, Ctr Reference Malad Hereditaires Metab Enfant & A, Lille, France
[2]
Kumamoto Univ Hosp, Dept Pediat, Kumamoto, Japan
[3]
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
[4]
Childrens Mem Hlth Inst, Dept Lab Diagnost, Warsaw, Poland
[5]
Hosp San Joan de Deu, ISCIII, Serv Neurol, Barcelona, Spain
[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]
Univ Paris, Hop Robert Debre, F-75252 Paris, France
[12]
CHU Timone, Hop Enfants, Serv Neurol, Ctr Reference Malad Hereditaires Metab, Marseilles, France
[13]
Hosp Maternoinfantil HRU Carlos Haya, Malaga, Spain
[14]
Charles Univ Prague, Fac Med 1, Prague, Czech Republic
[15]
St Thomas Hosp, Evelina Childrens Hosp, London, England
[16]
Univ Hosp Ctr Zagreb, Sch Med, Zagreb, Croatia
[17]
Childrens Natl Med Ctr, Washington, DC 20010 USA
[18]
Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, Copenhagen, Denmark
[19]
Univ Hosp Vrije Univ Brussel, Brussels, Belgium
[20]
Azienda Osped Padova, UOC Malattie Metab Ereditarie, Padua, Italy
[21]
Univ Hosp Ctr Zagreb, Zagreb, Croatia
[22]
Birmingham Childrens Hosp NHS Fdn Trust, Birmingham B4 6NH, W Midlands, England
[23]
Necker Enfants Malad Univ Hosp, Reference Ctr Inherited Metab Dis, Hop Necker Enfants Malad, AP HP
[24]
Inst Mother & Child Care Alfred Rusescu, Bucharest, Romania
[25]
Erasmus Univ, Erasmus MC Sophia Kinderziekenhuis, Rotterdam, Netherlands
[26]
UCL, Great Ormond St Hosp, Metab Unit, London, England
[27]
Osped Pediat Bambino Gesu, UOC Patol Metab, Rome, Italy
[28]
Gen Hosp Thessaloniki Hippocration, Metab Lab, Dept Pediat 1, Thessaloniki, Greece
[29]
Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London WC1N 3BG, England
[30]
Univ Childrens Hosp Heidelberg, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg
[31]
NIRMAN, Om Rachna Soc, Mumbai, Maharashtra, India
[32]
Hosp Clin Univ Santiago de Compostela, Dept Pediat, Metab Unit, Santiago De Compostela, Spain
[33]
Univ Las Palmas Gran Canaria, Unit Pediat Gastroenterol Hepatol & Nutr, Hosp Univ Maternoinfantil
[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3
Journal of inherited metabolic disease
Journal of inherited metabolic disease
1041-1057页
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