Willemsen MA - Search Results

1

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Among authors: willemsen ma. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

2

Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease.

Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Jacobs JF, et al. Among authors: willemsen ma. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. Bone Marrow Transplant. 2005. PMID: 16151419 No abstract available.

3

Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8.

Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA. Feenstra I, et al. Among authors: willemsen ma. Neuropediatrics. 2006 Apr;37(2):83-7. doi: 10.1055/s-2006-924108. Neuropediatrics. 2006. PMID: 16773506

4

Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid.

Willemsen MA, Engelke UF, van der Graaf M, Wevers RA. Willemsen MA, et al. Neuropediatrics. 2006 Oct;37(5):312-4. doi: 10.1055/s-2006-955968. Neuropediatrics. 2006. PMID: 17236113

5

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA. Verbeek MM, et al. Among authors: willemsen ma. Mol Genet Metab. 2007 Apr;90(4):363-9. doi: 10.1016/j.ymgme.2006.12.001. Epub 2007 Jan 19. Mol Genet Metab. 2007. PMID: 17240182

6

Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations.

Verbeek MM, Blom AM, Wevers RA, Lagerwerf AJ, van de Geer J, Willemsen MA. Verbeek MM, et al. Among authors: willemsen ma. Mol Genet Metab. 2008 Nov;95(3):127-32. doi: 10.1016/j.ymgme.2008.07.004. Epub 2008 Aug 22. Mol Genet Metab. 2008. PMID: 18722797

7

Clinical spectrum of ataxia-telangiectasia in adulthood.

Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M. Verhagen MM, et al. Among authors: willemsen ma. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770

8

Substrate deprivation therapy in juvenile Sandhoff disease.

Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Wortmann SB, et al. Among authors: willemsen ma. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4. J Inherit Metab Dis. 2009. PMID: 19898952

9

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.

Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J. Henneke M, et al. Among authors: willemsen ma. NMR Biomed. 2010 Jun;23(5):441-5. doi: 10.1002/nbm.1480. NMR Biomed. 2010. PMID: 20175147

10

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Brun L, et al. Among authors: willemsen ma. Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Neurology. 2010. PMID: 20505134

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