Rodés M - Search Results

1

Medium-chain acyl-CoA dehydrogenase deficiency in Spain.

Martínez G, Ribes A, Briones P, Rodés M, Baldellou A, Pineda M, Rodrigo C, Lorente I, García-Silva MT, Riudor E, Jaraba P, Lopez-Casas J, Nuñez-Roldan A. Martínez G, et al. Among authors: rodes m. J Inherit Metab Dis. 1998 Aug;21(6):693-4. doi: 10.1023/a:1005461407231. J Inherit Metab Dis. 1998. PMID: 9762615 No abstract available.

2

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

Briones P, Garavaglia B, Ribes A, Yoldi ME, Rodés M, Romero C, García-Bragado F. Briones P, et al. Among authors: rodes m. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.

3

Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.

Briones P, López MJ, De Meirleir L, Ribes A, Rodés M, Martinez-Costa C, Peris M, Lissens W. Briones P, et al. Among authors: rodes m. J Inherit Metab Dis. 1996;19(6):795-6. doi: 10.1007/BF01799177. J Inherit Metab Dis. 1996. PMID: 8982956 No abstract available.

4

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

Martínez G, Jiménez-Sánchez G, Divry P, Vianey-Saban C, Riudor E, Rodés M, Briones P, Ribes A. Martínez G, et al. Among authors: rodes m. Clin Chim Acta. 1997 Nov 28;267(2):143-54. doi: 10.1016/s0009-8981(97)00130-7. Clin Chim Acta. 1997. PMID: 9469249 Clinical Trial.

5

[Advances in biochemistry in the understanding of neurometabolic disorders].

Ribes A, Briones P, Rodés M. Ribes A, et al. Among authors: rodes m. Rev Neurol. 1999 Jan 1-15;28(1):11-5. Rev Neurol. 1999. PMID: 10101758 Review. Spanish.

6

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

García-Pérez MA, Climent C, Briones P, Vilaseca MA, Rodés M, Rubio V. García-Pérez MA, et al. Among authors: rodes m. J Inherit Metab Dis. 1997 Nov;20(6):769-77. doi: 10.1023/a:1005363600268. J Inherit Metab Dis. 1997. PMID: 9427144

7

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.

Riudor E, Arranz JA, Rodés M, Rubio V, Sentís M, Burlina AB. Riudor E, et al. Among authors: rodes m. J Inherit Metab Dis. 2000 Nov;23(7):662-8. doi: 10.1023/a:1005610325170. J Inherit Metab Dis. 2000. PMID: 11117427

8

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Ribes A, Briones P, Vilaseca MA, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R. Ribes A, et al. Among authors: rodes m. Eur J Pediatr. 1990 Mar;149(6):412-5. doi: 10.1007/BF02009662. Eur J Pediatr. 1990. PMID: 2332011

9

A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Rodes M, Ribes A, Pineda M, Alvarez L, Fabregas I, Fernandez Alvarez E, Coude FX, Grimber G. Rodes M, et al. J Inherit Metab Dis. 1987;10(1):73-81. doi: 10.1007/BF01799492. J Inherit Metab Dis. 1987. PMID: 3106719

10

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. Among authors: rodes m. Clin Chem. 1999 Jul;45(7):995-1001. Clin Chem. 1999. PMID: 10388475 Clinical Trial.

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