Pineda M - Search Results

1

Vanishing white matter disease associated with progressive macrocephaly.

Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper GC. Pineda M, et al. Neuropediatrics. 2008 Feb;39(1):29-32. doi: 10.1055/s-2008-1076738. Neuropediatrics. 2008. PMID: 18504679

2

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. de Koning TJ, et al. Among authors: pineda m. Neuropediatrics. 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. Neuropediatrics. 2000. PMID: 11508546

3

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: pineda m. Neuropediatrics. 2002 Aug;33(4):190-3. doi: 10.1055/s-2002-34494. Neuropediatrics. 2002. PMID: 12368988 Clinical Trial.

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: pineda m. 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: pineda m. 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: pineda m. Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y. Cerebellum. 2012. PMID: 22012410

7

Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.

Velasco-Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O'Callaghan M, Tondo M, Capdevila A, Blanch J, Artuch R, Pineda M. Velasco-Sánchez D, et al. Among authors: pineda m. Cerebellum. 2011 Mar;10(1):1-8. doi: 10.1007/s12311-010-0212-7. Cerebellum. 2011. PMID: 20865357

8

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV. Ramaekers VT, et al. Among authors: pineda m. Neuropediatrics. 2007 Aug;38(4):179-83. doi: 10.1055/s-2007-991148. Neuropediatrics. 2007. PMID: 18058624 Free article.

9

Natural history of Sanfilippo syndrome in Spain.

Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Delgadillo V, et al. Among authors: pineda m. Orphanet J Rare Dis. 2013 Dec 6;8:189. doi: 10.1186/1750-1172-8-189. Orphanet J Rare Dis. 2013. PMID: 24314109 Free PMC article.

10

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. Dev Med Child Neurol. 2000 Sep;42(9):629-33. doi: 10.1017/s0012162200001171. Dev Med Child Neurol. 2000. PMID: 11034457 Free article.

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