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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

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第一作者: Koelker, Stefan
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
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Journal of inherited metabolic disease

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