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

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Published in J Inherit Metab Dis on October 24, 2016

Authors

Andrew A M Morris1,2, Viktor Kožich3, Saikat Santra4, Generoso Andria5, Tawfeg I M Ben-Omran6, Anupam B Chakrapani7, Ellen Crushell8, Mick J Henderson9,10, Michel Hochuli11, Martina Huemer12,13,14, Miriam C H Janssen15, Francois Maillot16, Philip D Mayne17, Jenny McNulty8, Tara M Morrison18, Helene Ogier19, Siobhan O'Sullivan20, Markéta Pavlíková3, Isabel Tavares de Almeida21, Allyson Terry22,23, Sufin Yap24, Henk J Blom25, Kimberly A Chapman26

Author Affiliations

1: Institute of Human Development, University of Manchester, Manchester, UK. Andrew.morris@cmft.nhs.uk.
2: Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. Andrew.morris@cmft.nhs.uk.
3: Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
4: Clinical IMD, Birmingham Children's Hospital, Birmingham, UK.
5: Department of translational medicine, Federico II University, Naples, Italy.
6: Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
7: Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.
8: National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
9: Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
10: Biochemical Genetics, St James' University Hospital, Leeds, UK.
11: Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich, Switzerland.
12: Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich, Switzerland.
13: Rare Disease Initiative Zürich, University of Zürich, Zurich, Switzerland.
14: Dept. of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
15: Department of Internal medicine, Radboud University Medical Center, Nijmegen, Netherlands.
16: CHRU de Tours, Université François Rabelais, Tours, France.
17: Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.
18: HCU Network, Baulkham Hills, Australia.
19: Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.
20: Royal Belfast Hospital for Sick Children, Belfast, UK.
21: Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa, Portugal.
22: Institute of Human Development, University of Manchester, Manchester, UK.
23: Dietetic Department, Alder Hey Hospital, Liverpool, UK.
24: Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield, UK.
25: Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau, Germany.
26: Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.

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