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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

249 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.
Tebani A, Schmitz-Afonso I, Abily-Donval L, Héron B, Piraud M, Ausseil J, Brassier A, De Lonlay P, Zerimech F, Vaz FM, Gonzalez BJ, Marret S, Afonso C, Bekri S. Tebani A, et al. Among authors: vaz fm. Clin Chim Acta. 2017 Dec;475:7-14. doi: 10.1016/j.cca.2017.09.024. Epub 2017 Oct 2. Clin Chim Acta. 2017. PMID: 28982054 Free article.
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: vaz fm. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O. Zeharia A, et al. Among authors: vaz fm. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25. Am J Hum Genet. 2008. PMID: 18817903 Free PMC article.
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.
Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE, Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM. Houtkooper RH, et al. Among authors: vaz fm. Anal Biochem. 2009 Apr 15;387(2):230-7. doi: 10.1016/j.ab.2009.01.032. Epub 2009 Jan 31. Anal Biochem. 2009. PMID: 19454236
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: vaz fm. J Med Genet. 2022 Oct;59(10):957-964. doi: 10.1136/jmedgenet-2021-108061. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916232 Free PMC article.
249 results