Artuch R - Search Results

1

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: artuch r. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.

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

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

5

[Pathogenetic mechanisms in phenylketonuria: disorders affecting the metabolism of neurotransmitters and the antioxidant system].

Ormazábal A, Artuch R, Vilaseca MA, García-Cazorla A, Campistol J. Ormazábal A, et al. Among authors: artuch r. Rev Neurol. 2004 Nov 16-30;39(10):956-61. Rev Neurol. 2004. PMID: 15573314 Free article. Review. Spanish.

6

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

Ormazabal A, García-Cazorla A, Fernández Y, Fernández-Alvarez E, Campistol J, Artuch R. Ormazabal A, et al. Among authors: artuch r. J Neurosci Methods. 2005 Mar 15;142(1):153-8. doi: 10.1016/j.jneumeth.2004.08.007. J Neurosci Methods. 2005. PMID: 15652629

7

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

Pancho C, Garcia-Cazorla A, Varea V, Artuch R, Ferrer I, Vilaseca MA, Briones P, Campistol J. Pancho C, et al. Among authors: artuch r. J Pediatr Gastroenterol Nutr. 2005 Feb;40(2):230-2. doi: 10.1097/00005176-200502000-00030. J Pediatr Gastroenterol Nutr. 2005. PMID: 15699704 No abstract available.

8

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

Póo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G. Póo-Argüelles P, et al. Among authors: artuch r. J Inherit Metab Dis. 2006 Feb;29(1):220-3. doi: 10.1007/s10545-006-0212-4. J Inherit Metab Dis. 2006. PMID: 16601898

9

Methods for the diagnosis of creatine deficiency syndromes: a comparative study.

Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A. Arias A, et al. Among authors: artuch r. J Neurosci Methods. 2006 Sep 30;156(1-2):305-9. doi: 10.1016/j.jneumeth.2006.03.005. Epub 2006 Apr 18. J Neurosci Methods. 2006. PMID: 16621013

10

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol J, Artuch R. Ormazabal A, et al. Among authors: artuch r. Clin Chim Acta. 2006 Sep;371(1-2):159-62. doi: 10.1016/j.cca.2006.03.004. Epub 2006 Apr 19. Clin Chim Acta. 2006. PMID: 16624264

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