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Nilo Lambruschini

Research Profile

Disorders

Phenylketonurias

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MC García-Jiménez; Maria Teresa García-Silva; L Gómez-López; Mercedes Martínez-Pardo; M Luz Couce; C Pedrón Giner; O Alonso Luengo; L Peña Quintana; Antonio Baldellou; J Dalmau-Serra; Angels García-Cazorla; Nilo Lambruschini
[Epidemiological study of the metabolic diseases with homocystinuria in Spain].
Maria A Vilaseca; Nilo Lambruschini; Lilianne Gómez-López; Alejandra Gutiérrez; Juan Moreno; Mireia Tondo; Rafael Artuch; Jaume Campistol
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.
Rosa Gassió; Maria Antonia Vilaseca; Nilo Lambruschini; C Boix; M E Fusté; Jaume Campistol
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.

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All Publications

2012: MC García-Jiménez; Maria Teresa García-Silva; L Gómez-López; Mercedes Martínez-Pardo; M Luz Couce; C Pedrón Giner; O Alonso Luengo; L Peña Quintana; Antonio Baldellou; J Dalmau-Serra; Angels García-Cazorla; Nilo Lambruschini
[Epidemiological study of the metabolic diseases with homocystinuria in Spain].
Anales de pediatría (Barcelona, Spain : 2003) 2012;76(3):133-9.
2010: Maria A Vilaseca; Nilo Lambruschini; Lilianne Gómez-López; Alejandra Gutiérrez; Juan Moreno; Mireia Tondo; Rafael Artuch; Jaume Campistol
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.
Clinical biochemistry 2010;43(4-5):411-5.
2010: Rosa Gassió; Maria Antonia Vilaseca; Nilo Lambruschini; C Boix; M E Fusté; Jaume Campistol
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.
Molecular genetics and metabolism 2010;99 Suppl 1():S75-8.
2005: Pablo Millet; Maria Antonia Vilaseca; Carme Valls; Belén Pérez-Dueñas; Rafael Artuch; Lilian Gómez; Nilo Lambruschini; Jaume Campistol
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
Clinical biochemistry 2005;38(12):1127-32.
2005: Nilo Lambruschini; Belén Pérez-Dueñas; Maria Antonia Vilaseca; Anna Mas; Rafael Artuch; Rosa Gassió; Lilian Gómez; Alejandra Gutiérrez; Jaume Campistol
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.
Molecular genetics and metabolism 2005;86 Suppl 1():S54-60.
2005: Aida Ormazabal; Maria Antonia Vilaseca; Belén Pérez-Dueñas; Nilo Lambruschini; Lilian Gómez; Jaume Campistol; Rafael Artuch
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.
Journal of inherited metabolic disease 2005;28(6):863-70.
2004: Belén Pérez-Dueñas; Maria Antonia Vilaseca; Anna Mas; Nilo Lambruschini; Rafael Artuch; Lilian Gómez; Julia Pineda; Alejandra Gutiérrez; Montse Mila; Jaume Campistol
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Clinical biochemistry 2004;37(12):1083-90.
2004: Rafael Artuch; Catrina Colomé; Cristina Sierra; Nuria Brandi; Nilo Lambruschini; Jaume Campistol; Dolores Ugarte; Maria Antonia Vilaseca
A longitudinal study of antioxidant status in phenylketonuric patients.
Clinical biochemistry 2004;37(3):198-203.
2003: Rosa Gassió; Jaume Campistol; Maria Antonia Vilaseca; Nilo Lambruschini; Francisco J Cambra; Eugenia Fusté
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
Acta paediatrica (Oslo, Norway : 1992) 2003;92(12):1474-8.
2003: Catrina Colomé; Rafael Artuch; Cristina Sierra; Nuria Brandi; Nilo Lambruschini; Jaume Campistol; Maria Antonia Vilaseca
Plasma thiols and their determinants in phenylketonuria.
European journal of clinical nutrition 2003;57(8):964-8.
2003: Rafael Artuch; Maria Antonia Vilaseca; Nilo Lambruschini; Jaume Campistol
Coenzyme-Q(10) concentration in human phenylketonuria.
Journal of inherited metabolic disease 2003;26(8):821-3; author response 823.
2003: Catrina Colomé; Rafael Artuch; Maria Antonia Vilaseca; Cristina Sierra; Nuria Brandi; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol
Lipophilic antioxidants in patients with phenylketonuria.
The American journal of clinical nutrition 2003;77(1):185-8.
2002: Catrina Colomé; Rafael Artuch; Maria Antonia Vilaseca; Cristina Sierra; Nuria Brandi; Francisco J Cambra; Nilo Lambruschini; Jaume Campistol
Ubiquinone-10 content in lymphocytes of phenylketonuric patients.
Clinical biochemistry 2002;35(1):81-4.
2002: Belén Pérez-Dueñas; Francisco J Cambra; Maria Antonia Vilaseca; Nilo Lambruschini; Jaume Campistol; J A Camacho
New approach to osteopenia in phenylketonuric patients.
Acta paediatrica (Oslo, Norway : 1992) 2002;91(8):899-904.
2001: Catrina Colomé; Rafael Artuch; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; Maria Antonia Vilaseca
Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?
Clinical biochemistry 2001;34(5):373-6.
2001: Rafael Artuch; Catrina Colomé; Maria Antonia Vilaseca; Cristina Sierra; Francisco J Cambra; Nilo Lambruschini; Jaume Campistol
Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria.
Journal of inherited metabolic disease 2001;24(3):359-66.
2001: J Mallolas; Maria Antonia Vilaseca; C Pavia; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; D Gómez; Ana Carrió; Xavier Estivill; Montserrat Milà
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
Journal of molecular medicine (Berlin, Germany) 2001;78(12):721-4.
2000: J Mallolas; Maria Antonia Vilaseca; Jaume Campistol; Nilo Lambruschini; Francisco J Cambra; M E Fusté; Montserrat Milà
[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].
Revista de neurologia 2000;31(10):907-10.
1999: J Mallolas; Maria Antonia Vilaseca; Jaume Campistol; Nilo Lambruschini; Francisco J Cambra; Xavier Estivill; Montserrat Milà
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Human genetics 1999;105(5):468-73.
1999: Rafael Artuch; Maria Antonia Vilaseca; J Moreno; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol
Decreased serum ubiquinone-10 concentrations in phenylketonuria.
The American journal of clinical nutrition 1999;70(5):892-5.
1999: J Mallolas; Montserrat Milà; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; Maria Antonia Vilaseca
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.
Molecular genetics and metabolism 1999;67(2):156-61.
1998: D Moyano; Maria Antonia Vilaseca; Rafael Artuch; Nilo Lambruschini
Plasma amino acids in anorexia nervosa.
European journal of clinical nutrition 1998;52(9):684-9.
1998: Cristina Sierra; Maria Antonia Vilaseca; D Moyano; Nuria Brandi; Jaume Campistol; Nilo Lambruschini; Francisco J Cambra; R Deulofeu; Aurea Mira
Antioxidant status in hyperphenylalaninemia.
Clinica chimica acta; international journal of clinical chemistry 1998;276(1):1-9.
1998: D Moyano; Maria Antonia Vilaseca; Rafael Artuch; Carme Valls; Nilo Lambruschini
Plasma total-homocysteine in anorexia nervosa.
European journal of clinical nutrition 1998;52(3):172-5.
1998: J Mallolas; Jaume Campistol; Nilo Lambruschini; Maria Antonia Vilaseca; Francisco J Cambra; Xavier Estivill; Montserrat Milà
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.
Human mutation 1998;11(6):482.
1995: José Mascaró; Juan Ferrando; J A Bombí; Nilo Lambruschini; J M Mascaró
Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.
Archives of dermatology 1995;131(4):454-8.
1994: Nilo Lambruschini; J Costa; J M Sanchez-Tapias; Eva Olmedo; X Lopez-Labrador; J Vilardell; Juan Rodes; M Teresa Jimenez De Anta
Perinatal transmission of hepatitis C virus from a mother without detectable antibodies to the virus.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1994;18(6):1027.
1993: M Bruguera; L Amat; O Garcia; Nilo Lambruschini; J Carnicer; A Bergada; E Martin Orte; Josep Costa; J M Sanchez-Tapias; Juan Rodés
Treatment of chronic hepatitis B in children with recombinant alfa interferon. Different response according to age at infection.
Journal of clinical gastroenterology 1993;17(4):296-9.