Willemsen MA - Search Results

1

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.

Wassenberg T, Monnens LA, Geurtz BP, Wevers RA, Verbeek MM, Willemsen MA. Wassenberg T, et al. Among authors: willemsen ma. JIMD Rep. 2012;4:39-45. doi: 10.1007/8904_2011_84. Epub 2011 Nov 2. JIMD Rep. 2012. PMID: 23430895 Free PMC article.

2

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.

Engelke UF, Tangerman A, Willemsen MA, Moskau D, Loss S, Mudd SH, Wevers RA. Engelke UF, et al. Among authors: willemsen ma. NMR Biomed. 2005 Aug;18(5):331-6. doi: 10.1002/nbm.966. NMR Biomed. 2005. PMID: 15996001 Clinical Trial.

3

Cerebral folate deficiency syndrome.

Willemsen MA, Wevers RA, Verbeek MM. Willemsen MA, et al. N Engl J Med. 2005 Aug 18;353(7):740; author reply 740. doi: 10.1056/NEJM200508183530721. N Engl J Med. 2005. PMID: 16107634 Free article. No abstract available.

4

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.

Willemsen MA, Mavinkurve-Groothuis AM, Wevers RA, Rotteveel JJ, Jakobs C. Willemsen MA, et al. Ann Neurol. 2005 Oct;58(4):653. doi: 10.1002/ana.20610. Ann Neurol. 2005. PMID: 16178031 No abstract available.

5

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Oostendorp M, Engelke UF, Willemsen MA, Wevers RA. Oostendorp M, et al. Among authors: willemsen ma. Clin Chem. 2006 Jul;52(7):1395-405. doi: 10.1373/clinchem.2006.069112. Epub 2006 May 18. Clin Chem. 2006. PMID: 16709621 Free article.

6

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Among authors: willemsen ma. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

7

Two Greek siblings with sepiapterin reductase deficiency.

Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672

8

Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).

Kay GW, Verbeek MM, Furlong JM, Willemsen MA, Palmer DN. Kay GW, et al. Among authors: willemsen ma. Neurochem Int. 2009 Dec;55(8):783-8. doi: 10.1016/j.neuint.2009.07.012. Epub 2009 Aug 5. Neurochem Int. 2009. PMID: 19664668 Free PMC article.

9

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA. Haaxma CA, et al. Among authors: willemsen ma. Am J Med Genet A. 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620. Am J Med Genet A. 2010. PMID: 20799324

10

Sjögren-Larsson syndrome in clinical practice.

Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA. Fuijkschot J, et al. Among authors: willemsen ma. J Inherit Metab Dis. 2012 Nov;35(6):955-62. doi: 10.1007/s10545-012-9518-6. Epub 2012 Jul 26. J Inherit Metab Dis. 2012. PMID: 22833178 Review.

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