Wanders RJ - Search Results

1

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

Perez-Cerda C, García-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, García-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A. Perez-Cerda C, et al. Among authors: wanders rj. Pediatr Res. 2005 Sep;58(3):488-91. doi: 10.1203/01.pdr.0000176916.94328.cd. Pediatr Res. 2005. PMID: 16148061

2

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M. Poll-The BT, et al. Among authors: wanders rj. Mol Genet Metab. 2004 Apr;81(4):295-9. doi: 10.1016/j.ymgme.2003.11.013. Mol Genet Metab. 2004. PMID: 15059617

3

First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.

Pérez-Cerdá C, Merinero B, Jiménez A, García MJ, Sanz P, Ijlst L, Wanders RJ, Ugarte M. Pérez-Cerdá C, et al. Among authors: wanders rj. Prenat Diagn. 1993 Jun;13(6):529-33. doi: 10.1002/pd.1970130616. Prenat Diagn. 1993. PMID: 8372080

4

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ. Pons R, et al. Among authors: wanders rj. Pediatr Neurol. 1996 Apr;14(3):236-43. doi: 10.1016/0887-8994(96)00021-5. Pediatr Neurol. 1996. PMID: 8736409 Review.

5

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Among authors: wanders rj. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.

6

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: wanders rj. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414

7

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.

Casals N, Pié J, Casale CH, Zapater N, Ribes A, Castro-Gago M, Rodriguez-Segade S, Wanders RJ, Hegardt FG. Casals N, et al. Among authors: wanders rj. J Lipid Res. 1997 Nov;38(11):2303-13. J Lipid Res. 1997. PMID: 9392428 Free article.

8

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.

Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Zschocke J, et al. Among authors: wanders rj. Pediatr Res. 2000 Dec;48(6):852-5. doi: 10.1203/00006450-200012000-00025. Pediatr Res. 2000. PMID: 11102558

9

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

Casale CH, Casals N, Pié J, Zapater N, Pérez-Cerdá C, Merinero B, Martínez-Pardo M, García-Peñas JJ, García-Gonzalez JM, Lama R, Poll-The BT, Smeitink JA, Wanders RJ, Ugarte M, Hegardt FG. Casale CH, et al. Among authors: wanders rj. Arch Biochem Biophys. 1998 Jan 1;349(1):129-37. doi: 10.1006/abbi.1997.0456. Arch Biochem Biophys. 1998. PMID: 9439591

10

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.

Luís PB, Ruiter JP, Ofman R, Ijlst L, Moedas M, Diogo L, Garcia P, de Almeida IT, Duran M, Wanders RJ, Silva MF. Luís PB, et al. Among authors: wanders rj. Biochem Pharmacol. 2011 Dec 1;82(11):1740-6. doi: 10.1016/j.bcp.2011.07.103. Epub 2011 Aug 6. Biochem Pharmacol. 2011. PMID: 21843514

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