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pro vyhledávání: '"M. Luis Cardoso"'
Autor:
Esmeralda Martins, Laura Vilarinho, Clara Barbot, Esmeralda Rodrigues, Elisa Leão Teles, Altina Ramos, M. Luis Cardoso, Michael J. Bennett
Publikováno v:
Journal of Inherited Metabolic Disease. 34:835-842
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of t
Autor:
M. Luis Cardoso, Manuel A. S. Santos, Hugo Alexandre Oliveira Rocha, José Luís Oliveira, Laura Vilarinho, Miguel Pinheiro
Publikováno v:
Biological and Medical Data Analysis ISBN: 9783540239642
ISBMDA
ISBMDA
The introduction of the Tandem Mass Spectrometry (MS/MS), in neonatal screening laboratories, has opened the doors to innovative newborn screening analysis. With this technology the number of metabolic disorders, that can be detected, from dried bloo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e139ba9afc85c49357abd1545746ca7
https://doi.org/10.1007/978-3-540-30547-7_45
https://doi.org/10.1007/978-3-540-30547-7_45
Autor:
M. Luis Cardoso, Paula A. Oliveira, Lúcio Lara Santos, Rosário Pinto-Leite, Regina Arantes-Rodrigues
Publikováno v:
BMC Proceedings
CIÊNCIAVITAE
CIÊNCIAVITAE
Cisplatin is an inorganic platinum agent (cis-diamminedichloroplatinum) with antineoplastic activity. It’s been an important component of standard treatment regimens for several human malignancies including bladder cancer [1]. Cisplatin forms highl
Akademický článek
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Publikováno v:
CIÊNCIAVITAE
Scopus-Elsevier
Scopus-Elsevier
Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda20ca30ecbc1eb2c13b9ff26c6d4be
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033208662&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033208662&partnerID=MN8TOARS