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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (vol 38, pg 1041, 2015)

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第一作者: Koelker, Stefan
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] Hosp Materno Infantil, HRU Carlos Haya, Malaga, Spain [3] Kumamoto Univ Hosp, Dept Pediat, Kumamoto, Japan [4] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands [5] Gen Hosp Thessaloniki Hippocrat, Metab Lab, Dept Pediat 1, Thessaloniki, Greece [6] IMAGINE Inst, Paris, France [7] Univ Childrens Hosp, Div Inherited Metab Dis, Dept Gen Pediat, D-69120 Heidelberg, Germany [8] Childrens Mem Hlth Inst, Dept Lab Diagnost, Warsaw, Poland [9] Hosp Sao Joao, EPE, Serv Pediat, Unidade Doencas Metab, Oporto, Portugal [10] Univ Manchester, Manchester Acad Hlth Sci Ctr, Willink Biochem Genet Unit, Genet Med, Manchester [11] Med Univ Innsbruck, Clin Pediat 1, Inherited Metab Disorders, A-6020 Innsbruck, Austria [12] Inst Mother & Child Hlth, Screening Dept, Warsaw, Poland [13] Univ Paris, Hop Robert Debre, F-75252 Paris, France [14] CHU Timone, Hop Enfants, Serv Neurol, Ctr Reference Malad Hereditaires Metab, Marseilles, France [15] Charles Univ Prague, Fac Med 1, Prague, Czech Republic [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] Azienda Osped Padova, UOC Malattie Metab Ereditarie, Padua, Italy [21] Univ Hosp Ctr Zagreb, Zagreb, Croatia [22] Hosp San Joan de Deu, Serv Neurol, ISCIII, Barcelona, Spain [23] Birmingham Childrens Hosp NHS Fdn Trust, Birmingham B4 6NH, W Midlands, England [24] Inst Mother & Child Care Alfred Rusescu, Bucharest, Romania [25] Vrije Univ Brussel, Univ Hosp, Brussels, Belgium [26] Erasmus Univ, Erasmus MC Sophia Kinderziekenhuis, Rotterdam, Netherlands [27] UCL, Great Ormond St Hosp, Metab Unit, London, England [28] Univ Las Palmas Gran Canaria, Unit Pediat Gastroenterol Hepatol & Nutr, Hosp Univ Materno Infantil [29] Univ Santiago de Compostela, Hosp Clin, Dept Pediat, Metab Unit, Santiago De Compostela, Spain [30] Osped Pediat Bambino Gesu, UOC Patol Metab, Rome, Italy [31] Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London WC1N 3BG, England [32] Hosp Virgen de la Arrixaca Murcia, Inborn Metab Dis Unit, El Palmar, Spain [33] Om Rachna Soc, NIRMAN, Bombay, Maharashtra, India [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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