Artuch R - Search Results

1

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: artuch r. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216

2

Increased urine methylmalonic acid excretion in infants with apnoeas.

Artuch R, Calvo M, Ribes A, Camarasa F, Vilaseca MA. Artuch R, et al. J Inherit Metab Dis. 1998 Feb;21(1):86-7. doi: 10.1023/a:1005383919335. J Inherit Metab Dis. 1998. PMID: 9501280 No abstract available.

3

[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].

Artuch R, Pineda M, Vilaseca MA, Briones P, Ribes A, Colomer J, Vernet A, Campistol J. Artuch R, et al. Rev Neurol. 1998 Jan;26(149):38-42. Rev Neurol. 1998. PMID: 9533203 Spanish.

4

Plasma amino acids in anorexia nervosa.

Moyano D, Vilaseca MA, Artuch R, Lambruschini N. Moyano D, et al. Among authors: artuch r. Eur J Clin Nutr. 1998 Sep;52(9):684-9. doi: 10.1038/sj.ejcn.1600625. Eur J Clin Nutr. 1998. PMID: 9756126

5

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

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

6

[Antiepileptic drugs and carnitine].

Campistol J, Chávez B, Vilaseca MA, Artuch R. Campistol J, et al. Among authors: artuch r. Rev Neurol. 2000 Jun;30 Suppl 1:S105-9. Rev Neurol. 2000. PMID: 10904975 Spanish.

7

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

8

Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.

Artuch R, Colomé C, Playán A, Alcaine MJ, Briones P, Montoya J, Vilaseca MA, Pineda M. Artuch R, et al. Clin Biochem. 2000 Aug;33(6):481-5. doi: 10.1016/s0009-9120(00)00137-5. Clin Biochem. 2000. PMID: 11074240

9

Diagnostic approach to inborn errors of metabolism in an emergency unit.

Calvo M, Artuch R, Macià E, Luaces C, Vilaseca MA, Pou J, Pineda M. Calvo M, et al. Among authors: artuch r. Pediatr Emerg Care. 2000 Dec;16(6):405-8. doi: 10.1097/00006565-200012000-00006. Pediatr Emerg Care. 2000. PMID: 11138882

10

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: artuch r. Clin Chem Lab Med. 2000 Oct;38(10):965-9. doi: 10.1515/CCLM.2000.143. Clin Chem Lab Med. 2000. PMID: 11140630

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