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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Pubblicato in:J Inherit Metab Dis
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Netherlands 2016
Soggetti:
Guidelines
Accesso online: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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