Briones P - Search Results

1

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG. Kleijer WJ, et al. Among authors: briones p. J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877. J Inherit Metab Dis. 2002. PMID: 12408190

2

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P. García-Silva MT, et al. Among authors: briones p. J Inherit Metab Dis. 2004;27(5):591-600. doi: 10.1023/b:boli.0000042984.42433.d8. J Inherit Metab Dis. 2004. PMID: 15669674

3

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E, Matthijs G, Jaeken J, Chabás A. Briones P, et al. J Inherit Metab Dis. 2002 Dec;25(8):635-46. doi: 10.1023/a:1022825113506. J Inherit Metab Dis. 2002. PMID: 12705494

4

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ. Pons R, et al. Among authors: briones p. Pediatr Neurol. 1996 Apr;14(3):236-43. doi: 10.1016/0887-8994(96)00021-5. Pediatr Neurol. 1996. PMID: 8736409 Review.

5

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Quintana E, et al. Among authors: briones p. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652410

6

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. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.

7

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS. Ribes A, et al. Among authors: briones p. J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978. J Inherit Metab Dis. 1992. PMID: 1405471 No abstract available.

8

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Briones P, Vilaseca MA, Ribes A, Vernet A, Lluch M, Cusi V, Huckriede A, Agsteribbe E. Briones P, et al. J Inherit Metab Dis. 1997 Aug;20(4):569-77. doi: 10.1023/a:1005303008439. J Inherit Metab Dis. 1997. PMID: 9266394

9

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. Among authors: briones p. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563

10

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A. Navarro-Sastre A, et al. Among authors: briones p. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S293-6. doi: 10.1007/s10545-010-9155-x. Epub 2010 Jul 8. J Inherit Metab Dis. 2010. PMID: 20614188

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