Výsledky vyhledávání - "M A, Vilaseca Buscà"

[Hyperhomocystinemia and 677C T methylenetetrahydrofolate reductase polymorphism as a cardiovascular risk factor in childhood]

Autor: C, Mainou Cid, N, García Giralt, M A, Vilaseca Buscà, I, Ferrer Codina, José F, Meco López, A, Mainou Pintó, X, Pintó Sala, D, Grinberg Vaisman, S, Balcells Comas

Publikováno v: Anales espanoles de pediatria. 56(5)

Factors related to hyperhomocystinemia in the pediatric population of our geographical area with a parental history of premature coronary disease (PCD) are not well known.To evaluate the possible association between plasma total homocysteine (tHcy),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5e5913fccc9edf40c3af5cf465352c1d
https://pubmed.ncbi.nlm.nih.gov/12042166

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[Evolution of a case of tyrosinemia type I treated with NTBC]

Autor: J, Ros Viladoms, M A, Vilaseca Buscà, N, Lambruschini Ferri, A, Mas Comas, E, González Pascual, E, Holme

Publikováno v: Anales espanoles de pediatria. 54(3)

Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a2bb55dbe7c108a0c1af3b81fd4bf16
https://pubmed.ncbi.nlm.nih.gov/11262262

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[Proposed protocol for the study of cerebrovascular disease in childhood]

Autor: E, Cardo Jalón, M, Pineda Marfà, R, Artuch Iriberri, M A, Vilaseca Buscà, J, Campistol Plana

Publikováno v: Anales espanoles de pediatria. 52(5)

The etiology of cerebrovascular disease in the paediatric population, remains unknown in up to 40% of the cases ("idiopathic"), but recent advances could improve this percentage. We devised a comprehensive study protocol for such investigation aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3157b43f1fd35956ce33e6cc5e9db08a
https://pubmed.ncbi.nlm.nih.gov/11003944

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[Reye-like syndrome as initial manifestation of mitochondrial disease]

Autor: J M, Quintillá Martínez, J, Campistol Plana, M D, Boleda Vall-Llobera, M A, Vilaseca Buscà, R, Artuch Iriberri, A, Palomeque Rico, P, Briones Godino, A, Ribes Rubio

Publikováno v: Anales espanoles de pediatria. 52(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f9a66b881a753d39c76314bf7e108d4a
https://pubmed.ncbi.nlm.nih.gov/11003951

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[Embryonic pathology caused by maternal phenylketonuria. A cause of underdiagnosed mental retardation. A report of 8 cases]

Autor: J, Campistol Plana, M, Arellano Pedrola, P, Poo Argüelles, C, Escofet Sotera, P, Pérez Olarte, M A, Vilaseca Buscà

Publikováno v: Anales espanoles de pediatria. 51(2)

Maternal phenylketonuria (MPKU) is characterized by intrauterine growth retardation, microcephaly, congenital malformations (mainly cardiac defects), dysmorphic facial features and mental retardation. There are women of child-bearing age that do not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::be5012e93cc5e5f6639800e3a649eb45
https://pubmed.ncbi.nlm.nih.gov/10495499

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