Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. Wamelink MM, et al. Among authors: tavares de almeida i. J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3. J Inherit Metab Dis. 2015. PMID: 25647543 Free PMC article.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ. Mendes MI, et al. Among authors: tavares de almeida i. J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23. J Inherit Metab Dis. 2014. PMID: 23974653
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. Ventura FV, et al. Among authors: tavares de almeida i. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
Functional correction by antisense therapy of a splicing mutation in the GALT gene.
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I. Coelho AI, et al. Among authors: tavares de almeida i. Eur J Hum Genet. 2015 Apr;23(4):500-6. doi: 10.1038/ejhg.2014.149. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052314 Free PMC article.
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
Rocha MS, Teerlink T, Janssen MC, Kluijtmans LA, Smulders Y, Jakobs C, Tavares de Almeida I, Rivera I, Castro R, Blom HJ. Rocha MS, et al. Among authors: tavares de almeida i. Atherosclerosis. 2012 Jun;222(2):509-11. doi: 10.1016/j.atherosclerosis.2012.03.009. Epub 2012 Mar 24. Atherosclerosis. 2012. PMID: 22484094
47 results