Santer R - Search Results

1

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, Plecko B, Santer R, Becker K, Barth PG. Valianpour F, et al. Among authors: santer r. J Pediatr. 2002 Nov;141(5):729-33. doi: 10.1067/mpd.2002.129174. J Pediatr. 2002. PMID: 12410207

2

Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

Santer R, Claviez A, Oldigs HD, Schaub J, Schutgens RB, Wanders RJ. Santer R, et al. Eur J Pediatr. 1993 Apr;152(4):339-42. doi: 10.1007/BF01956749. Eur J Pediatr. 1993. PMID: 8482286

3

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Among authors: santer r. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.

4

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

Schmidt-Sommerfeld E, Penn D, Duran M, Bennett MJ, Santer R, Stanley CA. Schmidt-Sommerfeld E, et al. Among authors: santer r. J Pediatr. 1993 May;122(5 Pt 1):708-14. doi: 10.1016/s0022-3476(06)80009-0. J Pediatr. 1993. PMID: 8496747

5

Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

Spiekerkoetter U, Haussmann U, Mueller M, ter Veld F, Stehn M, Santer R, Lukacs Z. Spiekerkoetter U, et al. Among authors: santer r. J Pediatr. 2010 Oct;157(4):668-73. doi: 10.1016/j.jpeds.2010.04.063. Epub 2010 Jun 12. J Pediatr. 2010. PMID: 20547398

6

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.

Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Santer R, et al. Eur J Pediatr. 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. Eur J Pediatr. 1998. PMID: 9809815 Review.

7

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: santer r. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638

8

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.

Eichmann D, Hufnagel M, Quick P, Santer R. Eichmann D, et al. Among authors: santer r. Eur J Pediatr. 1999 Mar;158(3):204-6. doi: 10.1007/s004310051049. Eur J Pediatr. 1999. PMID: 10094438

9

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. Among authors: santer r. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.

10

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: santer r. J Inherit Metab Dis. 2009 Aug;32(4):498-505. doi: 10.1007/s10545-009-1126-8. Epub 2009 Apr 28. J Inherit Metab Dis. 2009. PMID: 19452263

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