Pineda M - Search Results

1

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

2

the allopurinol test in patients with Rett syndrome.

Pineda M, Vilaseca MA, Vernet A, Campistol J, Mas A, Fabrega C. Pineda M, et al. J Inherit Metab Dis. 1993;16(3):577-80. doi: 10.1007/BF00711686. J Inherit Metab Dis. 1993. PMID: 7609456 Clinical Trial. No abstract available.

3

[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.

4

[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.

5

Selective screening for hyperhomocysteinemia in pediatric patients.

Vilaseca MA, Moyano D, Artuch R, Ferrer I, Pineda M, Cardo E, Campistol J, Pavia C, Camacho JA. Vilaseca MA, et al. Among authors: pineda m. Clin Chem. 1998 Mar;44(3):662-4. Clin Chem. 1998. PMID: 9510877 No abstract available.

6

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

7

Tocopherol in inborn errors of intermediary metabolism.

Moyano D, Vilaseca MA, Pineda M, Campistol J, Vernet A, Póo P, Artuch R, Sierra C. Moyano D, et al. Among authors: pineda m. Clin Chim Acta. 1997 Jul 25;263(2):147-55. doi: 10.1016/s0009-8981(97)00061-2. Clin Chim Acta. 1997. PMID: 9246419

8

Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.

Artuch R, Vilaseca MA, Pineda M. Artuch R, et al. Among authors: pineda m. J Inherit Metab Dis. 1998 Dec;21(8):837-45. doi: 10.1023/a:1005470702369. J Inherit Metab Dis. 1998. PMID: 9870209

9

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. 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.

10

Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status.

Cardo E, Monrós E, Colomé C, Artuch R, Campistol J, Pineda M, Vilaseca MA. Cardo E, et al. Among authors: pineda m. J Child Neurol. 2000 May;15(5):295-8. doi: 10.1177/088307380001500505. J Child Neurol. 2000. PMID: 10830195

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