N Lambruschini
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Explore the profile of N Lambruschini including associated specialties, affiliations and a list of published articles.
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29
Citations
193
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Recent Articles
1.
Garcia-Jimenez M, Baldellou A, Garcia-Silva M, Dalmau-Serra J, Garcia-Cazorla A, Gomez-Lopez L, et al.
An Pediatr (Barc)
. 2011 Nov;
76(3):133-9.
PMID: 22047794
Objectives: To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment. Material And Methods: A national cross-sectional survey...
2.
Vilaseca M, Gomez-Lopez L, Lambruschini N, Gutierrez A, Garcia R, Meavilla S, et al.
Nutr Hosp
. 2011 Apr;
26(1):128-36.
PMID: 21519739
Introduction: Long-chain polyunsaturated fatty acid (LCPUFA) can be provided by diet (fatty fish, eggs, viscera and human milk) or synthetised from essential fatty acids linoleic and α-linolenic acids through the...
3.
Serrano M, Ormazabal A, Vilaseca M, Lambruschini N, Garcia-Romero R, Meavilla S, et al.
Clin Biochem
. 2011 Apr;
44(8-9):742-4.
PMID: 21497589
Objectives: To analyze the association between ammonia and glutamine used for metabolic control in inherited urea cycle disorders (UCD) in a large series of patients. Design And Methods: Paired plasma...
4.
Vilaseca M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Fuste E, Gassio R, et al.
Nutr Hosp
. 2010 Mar;
25(1):60-6.
PMID: 20204257
Objectives: Assessment of the quality of dietary treatment of phenylketonuria (PKU) patients and investigation of its relationship with the general intelligence of the patients. Methods: Cross-sectional and longitudinal study of...
5.
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
Gassio R, Vilaseca M, Lambruschini N, Boix C, Fuste M, Campistol J
Mol Genet Metab
. 2010 Feb;
99 Suppl 1:S75-8.
PMID: 20123475
Cognitive functions were assessed in 9 patients with mild to moderate phenylketonuria (PKU) ranging from 6 to 18 years of age, who were in long-term treatment (>5 years) with 5-9...
6.
Ormazabal A, Vilaseca M, Perez-Duenas B, Lambruschini N, Gomez L, Campistol J, et al.
J Inherit Metab Dis
. 2006 Jan;
28(6):863-70.
PMID: 16435178
Tetrahydrobiopterin (BH4) supplementation has been applied in PKU treatment, resulting in successful control of blood phenylalanine (Phe) concentrations. We evaluated serotonin status in PKU patients under classical dietary treatment (n...
7.
Vilaseca M, Cuartero M, Martinez de Salinas M, Lambruschini N, Pinto X, Urreizti R, et al.
J Inherit Metab Dis
. 2004 Dec;
27(6):775-7.
PMID: 15617186
Two successful pregnancies are reported in a pyridoxine-nonresponsive woman who was also homozygous for the MTHFR 677C>T polymorphism. Two healthy children were delivered, although there had also been an early...
8.
Gassio R, Campistol J, Vilaseca M, Lambruschini N, Cambra F, Fuste E
Acta Paediatr
. 2004 Feb;
92(12):1474-8.
PMID: 14971801
Aim: To evaluate the possible influence of dietary treatment on the quality of life of adult patients with PKU (phenylketonuria) following late introduction or resumption of a Phe-restricted diet. Methods:...
9.
Artuch R, Vilaseca M, Lambruschini N, Campistol J
J Inherit Metab Dis
. 2004 Feb;
26(8):821-3.
PMID: 14765535
No abstract available.
10.
Colome C, Artuch R, Sierra C, Brandi N, Lambruschini N, Campistol J, et al.
Eur J Clin Nutr
. 2003 Jul;
57(8):964-8.
PMID: 12879091
Objective: Treatment of phenylketonuria (PKU) patients consists of a phenylalanine-restricted diet supplemented with a tyrosine-, vitamin- and oligoelement-enriched amino-acid mixture. Vitamins and oligoelements may be deficient when compliance with the...