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

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected...

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Udgivet i:J Inherit Metab Dis
Main Authors: Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2016
Fag:
Guidelines
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5203861/
https://ncbi.nlm.nih.gov/pubmed/27778219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9979-0
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