van Domburg P - Search Results

1

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

Staps P, van Gaalen J, van Domburg P, Steijlen PM, Ferdinandusse S, den Heijer T, Seyger MMB, Theelen T, Willemsen MAAP. Staps P, et al. Among authors: van domburg p. JIMD Rep. 2020 Mar 25;53(1):61-70. doi: 10.1002/jmd2.12099. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395410 Free PMC article.

2

MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Willemsen MA, Van Der Graaf M, Van Der Knaap MS, Heerschap A, Van Domburg PH, Gabreëls FJ, Rotteveel JJ. Willemsen MA, et al. Among authors: van der graaf m, van der knaap ms, van domburg ph. AJNR Am J Neuroradiol. 2004 Apr;25(4):649-57. AJNR Am J Neuroradiol. 2004. PMID: 15090362 Free PMC article.

3

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.

van Domburg PH, Willemsen MA, Rotteveel JJ, de Jong JG, Thijssen HO, Heerschap A, Cruysberg JR, Wanders RJ, Gabreëls FJ, Steijlen PM. van Domburg PH, et al. Neurology. 1999 Apr 22;52(7):1345-52. doi: 10.1212/wnl.52.7.1345. Neurology. 1999. PMID: 10227616

4

Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome.

Willemsen MA, de Jong JG, van Domburg PH, Rotteveel JJ, Wanders RJ, Mayatepek E. Willemsen MA, et al. Among authors: van domburg ph. J Pediatr. 2000 Feb;136(2):258-60. doi: 10.1016/s0022-3476(00)70113-2. J Pediatr. 2000. PMID: 10657837

5

Preterm birth in Sjögren-Larsson syndrome.

Willemsen MA, Rotteveel JJ, van Domburg PH, Gabreëls FJ, Mayatepek E, Sengers RC. Willemsen MA, et al. Among authors: van domburg ph. Neuropediatrics. 1999 Dec;30(6):325-7. doi: 10.1055/s-2007-973513. Neuropediatrics. 1999. PMID: 10706028

6

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ. Willemsen MA, et al. Among authors: van domburg ph. Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. Brain. 2001. PMID: 11408337 Review.

7

Sjögren-Larsson syndrome.

Willemsen MA, de Jong JG, van Domburg PH, Rotteveel JJ, Wanders RJ, Mayatepek E. Willemsen MA, et al. Among authors: van domburg ph. J Pediatr. 2000 Feb;136(2):261. doi: 10.1016/s0022-3476(00)70114-4. J Pediatr. 2000. PMID: 10657838 No abstract available.

8

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

Willemsen MA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, Van Domburg PH, Deutman AF. Willemsen MA, et al. Among authors: van domburg ph. Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6. Am J Ophthalmol. 2000. PMID: 11124298

9

The Diagnostic and Prognostic Value of Neuropsychological Assessment in Memory Clinic Patients.

Jansen WJ, Handels RL, Visser PJ, Aalten P, Bouwman F, Claassen J, van Domburg P, Hoff E, Hoogmoed J, Leentjens AF, Rikkert MO, Oleksik AM, Smid M, Scheltens P, Wolfs C, Verhey F, Ramakers IH. Jansen WJ, et al. Among authors: van domburg p. J Alzheimers Dis. 2017;55(2):679-689. doi: 10.3233/JAD-160126. J Alzheimers Dis. 2017. PMID: 27716658

10

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H. van Domburg PH, et al. Brain. 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. Brain. 1996. PMID: 8673507 Free article.

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