Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency-Reference-Cited by-同舟云学术

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

Published:2016-10-24 Issue:1 Volume:40 Page:49-74
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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.

Funder

European Commission Health Program

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9979-0.pdf

Reference178 articles.

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2. Acosta PB (2010) Evaluation of nutritional status. In: Acosta PB (ed) Nutrition management of patients with inherited metabolic disorders. Jones and Bartlett, Sudbury, pp 67–98

3. Adam S, Almeida MF, Carbasius Weber E et al (2013) Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. Mol Genet Metab 110:454–459

4. Alcaide P, Krijt J, Ruiz-Sala P et al (2015) Enzymatic diagnosis of homocystinuria by determination of cystathionine-ss-synthase activity in plasma using LC-MS/MS. Clin Chim Acta 438:261–265

5. Alodaib AN, Carpenter K, Wiley V, Wotton T, Christodoulou J, Wilcken B (2012) Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias. JIMD Rep 5:1–6

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