Cardoso ML - Search Results

1

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C. Almeida LS, et al. Among authors: cardoso ml. Mol Genet Metab. 2004 Jul;82(3):214-9. doi: 10.1016/j.ymgme.2004.05.001. Mol Genet Metab. 2004. PMID: 15234334

2

Valongo C, Cardoso ML, Domingues P, Almeida L, Verhoeven N, Salomons G, Jakobs C, Vilarinho L. Valongo C, et al. Among authors: cardoso ml. Clin Chim Acta. 2004 Oct;348(1-2):155-61. doi: 10.1016/j.cccn.2004.05.013. Clin Chim Acta. 2004. PMID: 15369749

3

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: cardoso ml. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148

4

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L. Cardoso ML, et al. Mol Genet Metab. 2005 Jul;85(3):228-35. doi: 10.1016/j.ymgme.2005.02.009. Epub 2005 Apr 14. Mol Genet Metab. 2005. PMID: 15979035

5

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

Cardoso ML, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L. Cardoso ML, et al. Mol Genet Metab. 2004 Aug;82(4):334-8. doi: 10.1016/j.ymgme.2004.06.003. Mol Genet Metab. 2004. PMID: 15308132

6

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J. Cardoso ML, et al. Hum Mutat. 1999 Oct;14(4):355-6. doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I. Hum Mutat. 1999. PMID: 10502833

7

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L. Martins E, et al. Among authors: cardoso ml. J Inherit Metab Dis. 2011 Jun;34(3):835-42. doi: 10.1007/s10545-011-9287-7. Epub 2011 Feb 24. J Inherit Metab Dis. 2011. PMID: 21347589

8

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

Vilarinho L, Santorelli FM, Cardoso ML, Coelho T, Guimarães A, Coutinho P. Vilarinho L, et al. Among authors: cardoso ml. Eur Neurol. 1998;39(3):148-53. doi: 10.1159/000007925. Eur Neurol. 1998. PMID: 9605391

9

Liver transplantation prevents progressive neurological impairment in argininemia.

Silva ES, Cardoso ML, Vilarinho L, Medina M, Barbot C, Martins E. Silva ES, et al. Among authors: cardoso ml. JIMD Rep. 2013;11:25-30. doi: 10.1007/8904_2013_218. Epub 2013 Apr 5. JIMD Rep. 2013. PMID: 23559324 Free PMC article.

10

3-Hydroxy-3-methylglutaric aciduria in Portuguese population.

Vilarinho L, Cardoso ML, Rabier D, Rolland MO. Vilarinho L, et al. Among authors: cardoso ml. J Inherit Metab Dis. 1993;16(1):154-5. doi: 10.1007/BF00711329. J Inherit Metab Dis. 1993. PMID: 7683733 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

65 results

Search Page