Wanders RJ - Search Results

1

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

Dionisi-Vici C, Ruitenbeek W, Fariello G, Bentlage H, Wanders RJ, Schägger H, Bosman C, Piantadosi C, Sabetta G, Bertini E. Dionisi-Vici C, et al. Among authors: wanders rj. Ann Neurol. 1997 Oct;42(4):661-5. doi: 10.1002/ana.410420419. Ann Neurol. 1997. PMID: 9382480 Free article.

2

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C. Di Rosa G, et al. Among authors: wanders rj. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736096

3

Peroxisomal acyl-CoA-oxidase deficiency: two new cases.

Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Among authors: wanders rj. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048

4

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.

Rizzo C, Boenzi S, Wanders RJ, Duran M, Caruso U, Dionisi-Vici C. Rizzo C, et al. Among authors: wanders rj. Pediatr Res. 2003 Jun;53(6):1013-8. doi: 10.1203/01.PDR.0000064902.59052.0F. Epub 2003 Mar 19. Pediatr Res. 2003. PMID: 12646728

5

Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.

Wijburg FA, Barth PG, Ruitenbeek W, Wanders RJ, Vos GD, Ploos van Amstel SL, Schutgens RB. Wijburg FA, et al. Among authors: wanders rj. J Inherit Metab Dis. 1989;12 Suppl 2:349-51. doi: 10.1007/BF03335419. J Inherit Metab Dis. 1989. PMID: 2512441 No abstract available.

6

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Nijtmans LG, Barth PG, Lincke CR, Van Galen MJ, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJ, Van den Bogert C. Nijtmans LG, et al. Among authors: wanders rj. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193-201. doi: 10.1016/0925-4439(95)00044-5. Biochim Biophys Acta. 1995. PMID: 7727543 Free article.

7

Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families.

Barth PG, Wanders RJ, Ruitenbeek W, Roe C, Scholte HR, van der Harten H, van Moorsel J, Duran M, Dingemans KP. Barth PG, et al. Among authors: wanders rj. Neuromuscul Disord. 1998 Jun;8(5):296-304. doi: 10.1016/s0960-8966(98)00028-5. Neuromuscul Disord. 1998. PMID: 9673982

8

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.

den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA. den Boer ME, et al. Among authors: wanders rj. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. J Pediatr. 2003. PMID: 12838198

9

Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.

Bakker HD, Scholte HR, Van den Bogert C, Ruitenbeek W, Jeneson JA, Wanders RJ, Abeling NG, Dorland B, Sengers RC, Van Gennip AH. Bakker HD, et al. Among authors: wanders rj. Pediatr Res. 1993 Apr;33(4 Pt 1):412-7. doi: 10.1203/00006450-199304000-00019. Pediatr Res. 1993. PMID: 8479824

10

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.

Wijburg FA, Wanders RJ, van Lie Peters EM, Vos GD, Loggers HG, Bolhuis PA, Herzberg NH, Ruitenbeek W, van Wilsem A, ten Houten R, et al. Wijburg FA, et al. Among authors: wanders rj. J Inherit Metab Dis. 1991;14(3):297-300. doi: 10.1007/BF01811686. J Inherit Metab Dis. 1991. PMID: 1770777 No abstract available.

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