Verhoeven NM - Search Results

1

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. Among authors: verhoeven nm. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.

2

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: verhoeven nm. Mol Genet Metab. 2004 Jul;82(3):214-9. doi: 10.1016/j.ymgme.2004.05.001. Mol Genet Metab. 2004. PMID: 15234334

3

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Clin Chim Acta. 2005 Nov;361(1-2):1-9. doi: 10.1016/j.cccn.2005.04.022. Clin Chim Acta. 2005. PMID: 16169544 Review.

4

Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.

Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C. Verhoeven NM, et al. J Inherit Metab Dis. 2000 Dec;23(8):835-40. doi: 10.1023/a:1026764703486. J Inherit Metab Dis. 2000. PMID: 11196109

5

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. Salomons GS, et al. Among authors: verhoeven nm. Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326334 Free PMC article.

6

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C. Verhoeven NM, et al. J Inherit Metab Dis. 2005;28(2):169-79. doi: 10.1007/s10545-005-5261-6. J Inherit Metab Dis. 2005. PMID: 15877206

7

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: verhoeven nm. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988808 Free PMC article.

8

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: verhoeven nm. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

9

Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease.

Costa CG, Verhoeven NM, Kneepkens CM, Douwes AC, Wanders RJ, de Almeida IT, Duran M, Jakobs C. Costa CG, et al. Among authors: verhoeven nm. J Inherit Metab Dis. 1996;19(2):177-80. doi: 10.1007/BF01799423. J Inherit Metab Dis. 1996. PMID: 8739959 No abstract available.

10

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.

Verhoeven NM, Kulik W, van den Heuvel CM, Jakobs C. Verhoeven NM, et al. J Inherit Metab Dis. 1995;18 Suppl 1:45-60. doi: 10.1007/BF00711428. J Inherit Metab Dis. 1995. PMID: 9053555

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

87 results

Search Page

Filters