Pouwels PJW - Search Results

1

Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.

Al-Saady ML, Galabova H, Schoenmakers DH, Beerepoot S, Lindemans C, van Hasselt PM, van der Knaap MS, Wolf NI, Pouwels PJW. Al-Saady ML, et al. Among authors: pouwels pjw. J Inherit Metab Dis. 2024 Jul;47(4):792-804. doi: 10.1002/jimd.12725. Epub 2024 Mar 2. J Inherit Metab Dis. 2024. PMID: 38430011

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. 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. 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

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. AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74. AJNR Am J Neuroradiol. 2002. PMID: 12372733 Free PMC article.

5

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. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

6

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. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

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. 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. 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. Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19. Neurogenetics. 2008. PMID: 18350323

10

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.

van der Voorn JP, Pouwels PJ, Salomons GS, Barkhof F, van der Knaap MS. van der Voorn JP, et al. Neuroradiology. 2009 Oct;51(10):669-75. doi: 10.1007/s00234-009-0540-9. Epub 2009 May 30. Neuroradiology. 2009. PMID: 19484233 Free PMC article.

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