Lambruschini N - Search Results

1

[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: lambruschini n. Rev Neurol. 2000 Nov 16-30;31(10):907-10. Rev Neurol. 2000. PMID: 11244681 Spanish.

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: lambruschini n. 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

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: lambruschini n. Mol Genet Metab. 1999 Jun;67(2):156-61. doi: 10.1006/mgme.1999.2862. Mol Genet Metab. 1999. PMID: 10356315

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: lambruschini n. Hum Genet. 1999 Nov;105(5):468-73. doi: 10.1007/s004390051132. Hum Genet. 1999. PMID: 10598814

5

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: lambruschini n. J Mol Med (Berl). 2001;78(12):721-4. doi: 10.1007/s001090000160. J Mol Med (Berl). 2001. PMID: 11434725

6

Ubiquinone-10 content in lymphocytes of phenylketonuric patients.

Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Cambra FJ, Lambruschini N, Campistol J. Colomé C, et al. Among authors: lambruschini n. Clin Biochem. 2002 Feb;35(1):81-4. doi: 10.1016/s0009-9120(02)00278-3. Clin Biochem. 2002. PMID: 11937084

7

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Pérez-Dueñas B, Vilaseca MA, Mas A, Lambruschini N, Artuch R, Gómez L, Pineda J, Gutiérrez A, Mila M, Campistol J. Pérez-Dueñas B, et al. Among authors: lambruschini n. Clin Biochem. 2004 Dec;37(12):1083-90. doi: 10.1016/j.clinbiochem.2004.09.005. Clin Biochem. 2004. PMID: 15589814 Clinical Trial.

8

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

Lambruschini N, Pérez-Dueñas B, Vilaseca MA, Mas A, Artuch R, Gassió R, Gómez L, Gutiérrez A, Campistol J. Lambruschini N, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S54-60. doi: 10.1016/j.ymgme.2005.05.014. Epub 2005 Jul 22. Mol Genet Metab. 2005. PMID: 16040265

9

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: lambruschini n. Clin Chim Acta. 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6. Clin Chim Acta. 1998. PMID: 9760015

10

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: lambruschini n. Am J Clin Nutr. 1999 Nov;70(5):892-5. doi: 10.1093/ajcn/70.5.892. Am J Clin Nutr. 1999. PMID: 10539751

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