{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T13:40:38Z","timestamp":1793194838472,"version":"4.5.0"},"reference-count":235,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T00:00:00Z","timestamp":1480464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T00:00:00Z","timestamp":1480464000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"European Union in the framework of the Health Program.","award":["2012_12_02"],"award-info":[{"award-number":["2012_12_02"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data sources<\/jats:title>\n                    <jats:p>Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Key recommendations<\/jats:title>\n                    <jats:p>We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and\/or visual and\/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-016-9991-4","type":"journal-article","created":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T04:29:35Z","timestamp":1480480175000},"page":"21-48","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":300,"title":["Guidelines for diagnosis and management of the cobalamin\u2010related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8285-9657","authenticated-orcid":false,"given":"Martina","family":"Huemer","sequence":"first","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Childrens\u2019 Hospital Z\u00fcrich Zurich Switzerland"},{"name":"radiz \u2013 Rare Disease Initiative Z\u00fcrich, Clinical Research Priority Program University of Z\u00fcrich Zurich Switzerland"},{"name":"Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Diodato","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Schwahn","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Science Centre Manchester M13 9WL UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism Robert Debr\u00e9 University Hospital, APHP Paris France"},{"name":"Inserm U1141 Robert Debr\u00e9 Hospital Paris France"},{"name":"Universit\u00e9 Paris\u2010Diderot, Sorbonne Paris Cit\u00e9, site Robert Debr\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anabela","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Metabolic Unit Centro Hospitalar do Porto Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Francois","family":"Benoist","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism Robert Debr\u00e9 University Hospital, APHP Paris France"},{"name":"Inserm U1141 Robert Debr\u00e9 Hospital Paris France"},{"name":"Biochimie, facult\u00e9 de pharmacie Universit\u00e9 Paris Sud Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Pediatrics University Hospital Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Cerone","sequence":"additional","affiliation":[{"name":"University Dept of Pediatrics Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Couce","sequence":"additional","affiliation":[{"name":"Congenital Metabolic Diseases Unit Hospital Cl\u00ednico Universitario de Santiago de Compostela, IDIS, CIBER Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeles","family":"Garcia\u2010Cazorla","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurometabolism Unit, and CIBERER (ISCIII) Hospital Sant Joan de Deu Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences University of Florence Firence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Pasquini","sequence":"additional","affiliation":[{"name":"Metabolic and Newborn Screening Clinical Unit, Department of Neurosciences A. 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