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

176 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Fischer S, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6. J Inherit Metab Dis. 2014. PMID: 24599607
Liver transplantation in a case of argininaemia.
Santos Silva E, Martins E, Cardoso ML, Barbot C, Vilarinho L, Medina M. Santos Silva E, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2001 Dec;24(8):885-7. doi: 10.1023/a:1013960712516. J Inherit Metab Dis. 2001. PMID: 11916327 No abstract available.
Outcome of three cases of untreated maternal glutaric aciduria type I.
Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Garcia P, et al. Among authors: vilarinho l. Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28. Eur J Pediatr. 2008. PMID: 17661081
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Nogueira C, et al. Among authors: vilarinho l. Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27. Mol Genet Metab. 2008. PMID: 18164228
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
176 results