Barth PG - Search Results

1

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Abeling NG, Bräutigam C, Hoffmann GF, Barth PG, Wevers RA, Jaeken J, Fiumara A, Knust A, van Gennip AH. Abeling NG, et al. Among authors: barth pg. J Inherit Metab Dis. 2000 Jun;23(4):325-8. doi: 10.1023/a:1005650325003. J Inherit Metab Dis. 2000. PMID: 10896285 No abstract available.

2

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.

Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA. Abeling NG, et al. Among authors: barth pg. J Inherit Metab Dis. 1998 Jun;21(3):240-2. doi: 10.1023/a:1005307919767. J Inherit Metab Dis. 1998. PMID: 9686366 No abstract available.

3

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, et al. Barth PG, et al. J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907. J Inherit Metab Dis. 1993. PMID: 8412018

4

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts.

Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, van Gennip AH, Schutgens RB, Ketel AG. Barth PG, et al. J Inherit Metab Dis. 1996;19(2):157-60. doi: 10.1007/BF01799418. J Inherit Metab Dis. 1996. PMID: 8739954 Free article. No abstract available.

5

L-2-hydroxyglutaric aciduria and lactic acidosis.

Barth PG, Wanders RJ, Scholte HR, Abeling N, Jakobs C, Schutgens RB, Vreken P. Barth PG, et al. J Inherit Metab Dis. 1998 Jun;21(3):251-4. doi: 10.1023/a:1005316121584. J Inherit Metab Dis. 1998. PMID: 9686369 No abstract available.

6

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders.

Vreken P, Valianpour F, Overmars H, Barth PG, Selhorst JJ, van Gennip AH, Wanders RJ. Vreken P, et al. Among authors: barth pg. J Inherit Metab Dis. 2000 Jun;23(4):429-33. doi: 10.1023/a:1005676507682. J Inherit Metab Dis. 2000. PMID: 10896311 No abstract available.

7

Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters.

de Groot CJ, Wijburg FA, Barth PG, Bolhuis PA, Peelen W, Abeling NG, van den Hamer CJ. de Groot CJ, et al. Among authors: barth pg. J Inherit Metab Dis. 1989;12 Suppl 2:389-92. doi: 10.1007/BF03335431. J Inherit Metab Dis. 1989. PMID: 2512452 No abstract available.

8

Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.

Slot HM, Overweg-Plandsoen WC, Bakker HD, Abeling NG, Tamminga P, Barth PG, Van Gennip AH. Slot HM, et al. Among authors: barth pg. Neuropediatrics. 1993 Jun;24(3):139-42. doi: 10.1055/s-2008-1071531. Neuropediatrics. 1993. PMID: 8355818

9

L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.

Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RB, Trefz FK, et al. Barth PG, et al. Ann Neurol. 1992 Jul;32(1):66-71. doi: 10.1002/ana.410320111. Ann Neurol. 1992. PMID: 1642474

10

Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment.

Valianpour F, Wanders RJ, Overmars H, Vaz FM, Barth PG, van Gennip AH. Valianpour F, et al. Among authors: barth pg. J Lipid Res. 2003 Mar;44(3):560-6. doi: 10.1194/jlr.M200217-JLR200. Epub 2002 Dec 16. J Lipid Res. 2003. PMID: 12562862 Free article.

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