Pineda M - Search Results

1

Epilepsy spectrum in cerebral creatine transporter deficiency.

Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J. Fons C, et al. Among authors: pineda m. Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. Epilepsia. 2009. PMID: 19706062 Free article. No abstract available.

2

[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].

Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A. Campistol J, et al. Among authors: pineda m. Rev Neurol. 2007 Mar 16-31;44(6):343-7. Rev Neurol. 2007. PMID: 17385170 Free article. Spanish.

3

Arginine supplementation in four patients with X-linked creatine transporter defect.

Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J. Fons C, et al. Among authors: pineda m. J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16. J Inherit Metab Dis. 2008. PMID: 18925426

4

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A. Fons C, et al. Among authors: pineda m. Mol Genet Metab. 2010 Mar;99(3):296-9. doi: 10.1016/j.ymgme.2009.10.186. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 19955008 Clinical Trial.

5

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V. Climent C, et al. Among authors: pineda m. Hum Mutat. 1999 Oct;14(4):352-3. doi: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D. Hum Mutat. 1999. PMID: 10502831

6

[Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].

Artuch R, Colomé C, Vilaseca MA, Pineda M, Campistol J. Artuch R, et al. Among authors: pineda m. Rev Neurol. 1999 Jul 1-15;29(1):59-63. Rev Neurol. 1999. PMID: 10528314 Review. Spanish.

7

Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation.

Colomé C, Ferrer I, Artuch R, Vilaseca MA, Pineda M, Briones P. Colomé C, et al. Among authors: pineda m. Clin Chem Lab Med. 2000 Oct;38(10):965-9. doi: 10.1515/CCLM.2000.143. Clin Chem Lab Med. 2000. PMID: 11140630

8

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, García-Cazorla A, Serrano M, Pineda M, Campistol J. Pérez-Dueñas B, et al. Among authors: pineda m. Eur J Paediatr Neurol. 2009 Nov;13(6):534-40. doi: 10.1016/j.ejpn.2008.12.002. Epub 2009 Jan 22. Eur J Paediatr Neurol. 2009. PMID: 19167251

9

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA. Serrano M, et al. Among authors: pineda m. J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14. J Child Neurol. 2010. PMID: 19684305

10

[Diagnosis of ornithine carbamoyl transferase deficiency and heterozygote detection with allopurinol loading test].

Pineda M, Vilaseca MA, Mas A, Fábrega C, Fernández Alvarez E. Pineda M, et al. Med Clin (Barc). 1993 Oct 2;101(10):383-6. Med Clin (Barc). 1993. PMID: 8231346 Spanish.

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