Arranz JA - Search Results

1

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B. Macaya A, et al. Among authors: arranz ja. Neuropediatrics. 2005 Dec;36(6):389-94. doi: 10.1055/s-2005-872877. Neuropediatrics. 2005. PMID: 16429380

2

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E. Arranz JA, et al. Hum Mutat. 2002 Sep;20(3):180-8. doi: 10.1002/humu.10084. Hum Mutat. 2002. PMID: 12203990

3

Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.

del Toro M, Arranz JA, Macaya A, Riudor E, Raspall M, Moreno A, Vazquez E, Ortega A, Matsubara Y, Kure S, Roig M. del Toro M, et al. Among authors: arranz ja. Ann Neurol. 2006 Jul;60(1):148-52. doi: 10.1002/ana.20887. Ann Neurol. 2006. PMID: 16802295

4

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Riudor E, Arranz JA, Anguera R, Salcedo S, Roig M, del Toro M, Bahima C, Martínez G, Ribes A, Vianey-Saban C, Sentís M. Riudor E, et al. Among authors: arranz ja. J Inherit Metab Dis. 1998 Aug;21(6):673-4. doi: 10.1023/a:1005488718618. J Inherit Metab Dis. 1998. PMID: 9762604 No abstract available.

5

Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency.

Arranz JA, Riudor E, Rodés M, Roig M, Climent C, Rubio V, Sentís M, Burlina A. Arranz JA, et al. Clin Chem. 1999 Jul;45(7):995-1001. Clin Chem. 1999. PMID: 10388475 Clinical Trial.

6

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M. Arranz JA, et al. J Inherit Metab Dis. 2007 Oct;30(5):813. doi: 10.1007/s10545-007-0578-y. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570074

7

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.

Arranz JA, Riudor E, Marco-Marín C, Rubio V. Arranz JA, et al. J Inherit Metab Dis. 2007 Apr;30(2):217-26. doi: 10.1007/s10545-007-0429-x. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334707

8

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, Becerra A, Peralta F, de Kremer RD, Laróvere LE. Silvera-Ruiz SM, et al. Among authors: arranz ja. Orphanet J Rare Dis. 2019 Aug 19;14(1):203. doi: 10.1186/s13023-019-1177-3. Orphanet J Rare Dis. 2019. PMID: 31426867 Free PMC article.

9

Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension - A pilot study.

Rodríguez CE, Arranz JA, Colomé N, Bech-Serra JJ, Canals F, Del Toro M, Riudor E. Rodríguez CE, et al. Among authors: arranz ja. Proteomics Clin Appl. 2009 Dec;3(12):1430-9. doi: 10.1002/prca.200800251. Epub 2009 Oct 7. Proteomics Clin Appl. 2009. PMID: 21136962

10

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: arranz ja. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554

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