Cambra FJ - Search Results

1

Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.

Mallolas J, Milà M, Lambruschini N, Cambra FJ, Campistol J, Vilaseca MA. Mallolas J, et al. Among authors: cambra fj. Mol Genet Metab. 1999 Jun;67(2):156-61. doi: 10.1006/mgme.1999.2862. Mol Genet Metab. 1999. PMID: 10356315

2

Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

Mallolas J, Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Estivill X, Milà M. Mallolas J, et al. Among authors: cambra fj. Hum Mutat. 1998;11(6):482. doi: 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E. Hum Mutat. 1998. PMID: 10200057

3

Decreased serum ubiquinone-10 concentrations in phenylketonuria.

Artuch R, Vilaseca MA, Moreno J, Lambruschini N, Cambra FJ, Campistol J. Artuch R, et al. Among authors: cambra fj. Am J Clin Nutr. 1999 Nov;70(5):892-5. doi: 10.1093/ajcn/70.5.892. Am J Clin Nutr. 1999. PMID: 10539751

4

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M. Mallolas J, et al. Among authors: cambra fj. Hum Genet. 1999 Nov;105(5):468-73. doi: 10.1007/s004390051132. Hum Genet. 1999. PMID: 10598814

5

[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].

Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Fusté ME, Milà M. Mallolas J, et al. Among authors: cambra fj. Rev Neurol. 2000 Nov 16-30;31(10):907-10. Rev Neurol. 2000. PMID: 11244681 Spanish.

6

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

Mallolas J, Vilaseca MA, Pavia C, Lambruschini N, Cambra FJ, Campistol J, Gómez D, Carrió A, Estivill X, Milà M. Mallolas J, et al. Among authors: cambra fj. J Mol Med (Berl). 2001;78(12):721-4. doi: 10.1007/s001090000160. J Mol Med (Berl). 2001. PMID: 11434725

7

Antioxidant status in hyperphenylalaninemia.

Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra FJ, Deulofeu R, Mira A. Sierra C, et al. Among authors: cambra fj. Clin Chim Acta. 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6. Clin Chim Acta. 1998. PMID: 9760015

8

Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria.

Artuch R, Colomé C, Vilaseca MA, Sierra C, Cambra FJ, Lambruschini N, Campistol J. Artuch R, et al. Among authors: cambra fj. J Inherit Metab Dis. 2001 Jun;24(3):359-66. doi: 10.1023/a:1010500502275. J Inherit Metab Dis. 2001. PMID: 11486901

9

Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?

Colomé C, Artuch R, Lambruschini N, Cambra FJ, Campistol J, Vilaseca M. Colomé C, et al. Among authors: cambra fj. Clin Biochem. 2001 Jul;34(5):373-6. doi: 10.1016/s0009-9120(01)00249-1. Clin Biochem. 2001. PMID: 11522273

10

Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?

Gassió R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fusté E. Gassió R, et al. Among authors: cambra fj. Acta Paediatr. 2003 Dec;92(12):1474-8. Acta Paediatr. 2003. PMID: 14971801

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