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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

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第一作者: Morris, Andrew A. M.
作者单位: HCU Network, Baulkham Hills, Australia [1] Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Temple St, Dublin, Ireland [2] Birmingham Childrens Hosp, Clin IMD, Birmingham, W Midlands, England [3] Univ Naples Federico II, Dept Translat Med, Naples, Italy [4] Temple St Childrens Univ Hosp, Newborn Bloodspot Screening Lab, Dublin, Ireland [5] Hamad Med Corp, Dept Pediat, Doha, Qatar [6] Sheffield Childrens Hosp, Dept Inherited Metab Dis, Sheffield, S Yorkshire, England [7] Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech Republic [8] Univ Tours, CHRU Tours, Tours, France [9] Univ Hosp Zurich, Div Endocrinol Diabet & Clin Nutr, Zurich, Switzerland [10] Univ Childrens Hosp Zurich, Div Metab, Zurich, Switzerland [11] Hop Robert Debre, Serv Neurol Pediat & Malad Metabol, Paris, France [12] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands [13] Cent Manchester Univ Hosp, St Marys Hosp, Manchester Ctr Genom Med, Willink Unit, Oxford Rd [14] Univ Lisbon, Fac Pharm, Metabolism& Genet Grp, Lisbon, Portugal [15] Great Ormond St Hosp Sick Children, Dept Metab Med, London, England [16] Royal Belfast Hosp Sick Children, Belfast, Antrim, North Ireland [17] Univ Med Ctr Freiburg, Dept Gen Pediat Adolescent Med & Neonatol, Lab Clin Biochem & Metab [18] Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC USA [19] Univ Manchester, Inst Human Dev, Manchester, Lancs, England [20]
发布时间 2017-05-11
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Journal of inherited metabolic disease

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