Artuch R - Search Results

1

Implementation of second-tier tests in newborn screening for the detection of vitamin B₁₂ related acquired and genetic disorders: results on 258,637 newborns.

Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: artuch r. Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Orphanet J Rare Dis. 2021. PMID: 33931066 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

[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.

5

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

6

[Inborn errors of neurotransmitters in neuropaediatrics].

García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J. García-Cazorla A, et al. Among authors: artuch r. Rev Neurol. 2005 Jul 16-31;41(2):99-108. Rev Neurol. 2005. PMID: 16028189 Free article. Review. Spanish.

7

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibáñez L, Montoya J, Artuch R. Pineda M, et al. Among authors: artuch r. Ann Neurol. 2006 Feb;59(2):394-8. doi: 10.1002/ana.20746. Ann Neurol. 2006. PMID: 16365882

8

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: artuch r. Neuropediatrics. 2005 Dec;36(6):380-5. doi: 10.1055/s-2005-873078. Neuropediatrics. 2005. PMID: 16429378 Clinical Trial.

9

Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.

Ormazabal A, Vilaseca MA, Pérez-Dueñas B, Lambruschini N, Gómez L, Campistol J, Artuch R. Ormazabal A, et al. Among authors: artuch r. J Inherit Metab Dis. 2005;28(6):863-70. doi: 10.1007/s10545-005-0153-3. J Inherit Metab Dis. 2005. PMID: 16435178

10

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

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