Briones P - Search Results

1

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.

Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV. Hunter M, et al. Among authors: briones p. Pediatr Res. 2002 May;51(5):602-6. doi: 10.1203/00006450-200205000-00010. Pediatr Res. 2002. PMID: 11978884

2

[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].

Girós M, Bóveda MD, Vázquez de la Cruz A, Lázaro P, Gata A, Solar Boga A, Briones P. Girós M, et al. Among authors: briones p. Arch Soc Esp Oftalmol. 2003 Feb;78(2):111-4. Arch Soc Esp Oftalmol. 2003. PMID: 12647253 Spanish.

3

Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.

Pineda M, Solano A, Artuch R, Andreu AL, Playan A, Vilaseca MA, Colomer J, Briones P, Casademont J, Montoya J. Pineda M, et al. Among authors: briones p. Pediatr Res. 2004 Jul;56(1):55-9. doi: 10.1203/01.PDR.0000130475.20571.98. Epub 2004 May 5. Pediatr Res. 2004. PMID: 15128915

4

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Martí R, Nascimento A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M. Martí R, et al. Among authors: briones p. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe. Pediatr Res. 2010. PMID: 20421844

5

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I. Lissens W, et al. Among authors: briones p. Hum Mutat. 1996;7(1):46-51. doi: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664900

6

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.

Briones P, Girós M, Martinez V. Briones P, et al. J Inherit Metab Dis. 2001 Feb;24(1):79-80. doi: 10.1023/a:1005667024606. J Inherit Metab Dis. 2001. PMID: 11286387 No abstract available.

7

Severe neonatal galactose-dependent disease with low-normal epimerase activity.

Boleda MD, Girós ML, Briones P, Sanchís A, Alvarez L, Balaguer S, Holton JB. Boleda MD, et al. Among authors: briones p. J Inherit Metab Dis. 1995;18(1):88-9. doi: 10.1007/BF00711385. J Inherit Metab Dis. 1995. PMID: 7623454 No abstract available.

8

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Girós M, Briones P. Gort L, et al. Among authors: briones p. J Inherit Metab Dis. 2006 Dec;29(6):739-42. doi: 10.1007/s10545-006-0356-2. Epub 2006 Oct 14. J Inherit Metab Dis. 2006. PMID: 17041746

9

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Among authors: briones p. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579

10

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K. Aoki Y, et al. Among authors: briones p. Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927. Hum Genet. 1999. PMID: 10190325

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