Ramaekers VT - Search Results

1

Delayed-onset profound biotinidase deficiency.

Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J. Wolf B, et al. Among authors: ramaekers vt. J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0. J Pediatr. 1998. PMID: 9506660

2

A biotinidase Km variant causing late onset bilateral optic neuropathy.

Ramaekers VT, Suormala TM, Brab M, Duran R, Heimann G, Baumgartner ER. Ramaekers VT, et al. Arch Dis Child. 1992 Jan;67(1):115-9. doi: 10.1136/adc.67.1.115. Arch Dis Child. 1992. PMID: 1739323 Free PMC article.

3

Biotinidase Km-variants: detection and detailed biochemical investigations.

Suormala T, Ramaekers VT, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER. Suormala T, et al. Among authors: ramaekers vt. J Inherit Metab Dis. 1995;18(6):689-700. doi: 10.1007/BF02436758. J Inherit Metab Dis. 1995. PMID: 8750606

4

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577040 Free PMC article. Review. No abstract available.

5

[Juvenile optic neuropathy caused by Km variants of biotinidase].

Brab M, Ramaekers VT, Baumgartner ER, Heimann G, Reim M. Brab M, et al. Among authors: ramaekers vt. Klin Monbl Augenheilkd. 1992 Mar;200(3):204-9. doi: 10.1055/s-2008-1045738. Klin Monbl Augenheilkd. 1992. PMID: 1315891 German.

6

Clinical utility gene card for: biotinidase deficiency.

Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.

7

Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.

Ramaekers VT, Brab M, Rau G, Heimann G. Ramaekers VT, et al. Neuropediatrics. 1993 Apr;24(2):98-102. doi: 10.1055/s-2008-1071522. Neuropediatrics. 1993. PMID: 8352834

8

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

Kölker S, Ramaekers VT, Zschocke J, Hoffmann GF. Kölker S, et al. Among authors: ramaekers vt. J Pediatr. 2001 Feb;138(2):277-9. doi: 10.1067/mpd.2001.110303. J Pediatr. 2001. PMID: 11174631

9

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV. Ramaekers VT, et al. Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3. Mol Genet Metab. 2018. PMID: 29661558

10

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Moretti P, et al. Among authors: ramaekers vt. Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7. Neurology. 2005. PMID: 15781839

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