Aracil A - Search Results

1

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.

Pineda M, Vilaseca MA, Artuch R, Santos S, García González MM, Aracil A, Van Schaftingen E, Jaeken J. Pineda M, et al. Among authors: aracil a. Dev Med Child Neurol. 2000 Sep;42(9):629-33. doi: 10.1017/s0012162200001171. Dev Med Child Neurol. 2000. PMID: 11034457 Free article.

2

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.

Pineda M, Ribes A, Busquets C, Vilaseca MA, Aracil A, Christensen E. Pineda M, et al. Among authors: aracil a. Dev Med Child Neurol. 1998 Dec;40(12):840-2. doi: 10.1111/j.1469-8749.1998.tb12362.x. Dev Med Child Neurol. 1998. PMID: 9881681 Free article.

3

Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.

Pineda M, Girós M, Roels F, Espeel M, Ruiz M, Moser A, Moser HW, Wanders RJ, Pavia C, Conill J, Aracil A, Amat L, Pampols T. Pineda M, et al. Among authors: aracil a. J Child Neurol. 1999 Jul;14(7):434-9. doi: 10.1177/088307389901400705. J Child Neurol. 1999. PMID: 10573465

4

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients.

Artuch R, Aracil A, Mas A, Monrós E, Vilaseca MA, Pineda M. Artuch R, et al. Among authors: aracil a. Neuropediatrics. 2004 Apr;35(2):95-8. doi: 10.1055/s-2004-815830. Neuropediatrics. 2004. PMID: 15127307

5

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.

Ormazabal A, Artuch R, Vilaseca MA, Aracil A, Pineda M. Ormazabal A, et al. Among authors: aracil a. Neuropediatrics. 2005 Dec;36(6):380-5. doi: 10.1055/s-2005-873078. Neuropediatrics. 2005. PMID: 16429378 Clinical Trial.

6

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Casado M, et al. Among authors: aracil a. Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y. Cerebellum. 2012. PMID: 22012410

7

Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

Artuch R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P, Pineda M. Artuch R, et al. Among authors: aracil a. J Neurol Sci. 2006 Jul 15;246(1-2):153-8. doi: 10.1016/j.jns.2006.01.021. Epub 2006 May 3. J Neurol Sci. 2006. PMID: 16677673

8

Friedreich's ataxia: idebenone treatment in early stage patients.

Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, Pineda M. Artuch R, et al. Among authors: aracil a. Neuropediatrics. 2002 Aug;33(4):190-3. doi: 10.1055/s-2002-34494. Neuropediatrics. 2002. PMID: 12368988 Clinical Trial.

9

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.

Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell L, Sierra C, Brandi N, García-Arumí E, Rissech M, Velasco D, Costa JA, Artuch R. Pineda M, et al. Among authors: aracil a. Eur J Paediatr Neurol. 2008 Nov;12(6):470-5. doi: 10.1016/j.ejpn.2007.11.006. Epub 2008 Jan 30. Eur J Paediatr Neurol. 2008. PMID: 18234531

10

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R. Pineda M, et al. Among authors: aracil a. Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129. Mov Disord. 2010. PMID: 20629161 Clinical Trial.

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