Long-chain polyunsaturated fatty acid concentration in patients with inborn errors of metabolism.

Autor: Vilaseca, Ma. A.^1,2 vilaseca@hsjdbcen.org, Gómez-López, L.^2,3,4, Lambruschini, N.^2,3, Gutiérrez, A.^2,3, García, R.^2,3, Meavilla, S.^2,3, Moreno, J.¹, Artuch, R.^1,2,4

Publikováno v: Nutrición Hospitalaria. ene/feb2011, Vol. 26 Issue 1, p128-136. 9p.

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Autor: Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg-Vaisman DR, Balcells S

Publikováno v: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met). Here we present the analysis of 22 unrelated patients of different geographical origins, m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::89badacee7318b2bd5c5e9cf44112365
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11786

DHA SUPLEMENTATION IN PKU- EVALUATION OF RESPONSE

Autor: Campistol-Plana J, Gutierrez, A, Vilaseca MA, Capdevila-Cirera A, Vidal, M, Alonso-Colmenero I, Lopez, A, Colomer, R, Artuch-Iriberri R

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::088b6c101f22435c60e4958a45e03e4a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21567

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Autor: Quintana, E., Gort, L., Busquets, C., Navarro-Sastre, A., Lissens, Willy, Moliner, S., Lluch, M., Vilaseca, Ma., De Meirleir, Linda, Ribes, A., Briones, Paz

We screened for PDHA1 mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong clinical suspicion, and found changes with probable pathological significance in 20. Five patients presented new mutations: p.A169V, c.932_938del

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::7b0a849a74dae5b1509f4b60bbf9698f
https://biblio.vub.ac.be/vubir/mutational-study-in-the-pdha1-gene-of-40-patients-suspected-of-pyruvate-dehydrogenase-complex-deficiency(f2f070fa-5f0c-4365-b77b-e03fd5a73652).html

Mutations in urocanase gene in a patient with urocanic aciduria, mental retardation and intermittent ataxia

Autor: Artuch-Iriberri R, Espinos, C, Ormazabal-Herrero A, Vilaseca MA, Spaapen, LJM, Martinez-Rubio, D, Palau F, Pineda M

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::59c669e8ed020342c5e7e1269fa852e8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21581