Pouwels PJ - Search Results

1

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. van de Kamp JM, et al. Among authors: pouwels pj. Clin Genet. 2011 Mar;79(3):264-72. doi: 10.1111/j.1399-0004.2010.01460.x. Clin Genet. 2011. PMID: 20528887

2

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Among authors: pouwels pj. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548

3

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, Jakobs C. van der Knaap MS, et al. Among authors: pouwels pj. Ann Neurol. 2000 Apr;47(4):540-3. doi: 10.1002/1531-8249(200004)47:4<540::aid-ana23>3.3.co;2-b. Ann Neurol. 2000. PMID: 10762171

4

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.

Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. Moolenaar SH, et al. Among authors: pouwels pj. NMR Biomed. 2001 May;14(3):167-76. doi: 10.1002/nbm.690. NMR Biomed. 2001. PMID: 11357181

5

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J. van der Knaap MS, et al. Among authors: pouwels pj. AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74. AJNR Am J Neuroradiol. 2002. PMID: 12372733 Free PMC article.

6

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: pouwels pj. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

7

Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders.

van der Voorn JP, Pouwels PJ, Kamphorst W, Powers JM, Lammens M, Barkhof F, van der Knaap MS. van der Voorn JP, et al. Among authors: pouwels pj. AJNR Am J Neuroradiol. 2005 Mar;26(3):442-6. AJNR Am J Neuroradiol. 2005. PMID: 15760847 Free PMC article.

8

Childhood white matter disorders: quantitative MR imaging and spectroscopy.

van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J, Willemsen MA, Kremer HP, Barkhof F, van der Knaap MS. van der Voorn JP, et al. Among authors: pouwels pj. Radiology. 2006 Nov;241(2):510-7. doi: 10.1148/radiol.2412051345. Radiology. 2006. PMID: 17057071

9

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. Betsalel OT, et al. Among authors: pouwels pj. Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19. Neurogenetics. 2008. PMID: 18350323

10

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.

Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS. Zafeiriou DI, et al. Among authors: pouwels pj. Neuropediatrics. 2008 Jun;39(3):172-5. doi: 10.1055/s-0028-1093336. Epub 2008 Nov 7. Neuropediatrics. 2008. PMID: 18991197

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