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Author/Creator de Almeida, Isabel Tavares

1. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. Issue 1 (8th June 2013)

Authors:
Coelho, Ana I.; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; Paiva, Sandra; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Cardoso, M. Teresa; Ferreira, Elena; Sequeira, Sílvia; Leite, Margarida; Silva, Maria João; de Almeida, Isabel Tav...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
43
Record Type:
Journal Article
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2. Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines. Issue 5 (15th January 2013)

Authors:
Violante, Sara; IJlst, Lodewijk; Brinke, Heleen te; de Almeida, Isabel Tavares; Wanders, Ronald J. A.; Ventura, Fátima V.; Houten, Sander M.
Journal:
FASEB journal
Issue:
Volume 27:Issue 5(2013)
Page Start:
2039
Record Type:
Journal Article
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3. Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency. Issue 1 (24th October 2016)

Authors:
Morris, Andrew A. M.; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben‐Omran, Tawfeg I. M.; Chakrapani, Anupam B.; Crushell, Ellen; Henderson, Mick J.; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C. H.; Maillot, Francois; Mayne, Philip D.; McNulty, Jenny; Morrison, Tara M.; Ogier, Hele...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 1(2017)
Page Start:
49
Record Type:
Journal Article
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4. Insights into the Regulatory Domain of Cystathionine Beta‐Synthase: Characterization of Six Variant Proteins. Issue 10 (31st July 2014)

Authors:
Mendes, Marisa I. S.; Santos, Ana Sofia; Smith, Desirée E. C.; Lino, Paulo Roque; Colaço, Henrique G.; de Almeida, Isabel Tavares; Vicente, João B.; Salomons, Gajja S.; Rivera, Isabel; Blom, Henk J.; Leandro, Paula
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1195
Record Type:
Journal Article
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5. Protein arginine hypomethylation in a mouse model of cystathionine β‐synthase deficiency. Issue 6 (14th February 2014)

Authors:
Esse, Ruben; Imbard, Apolline; Florindo, Cristina; Gupta, Sapna; Quinlivan, Eoin P.; Davids, Mariska; Teerlink, Tom; de Almeida, Isabel Tavares; Kruger, Warren D.; Blom, Henk J.; Castro, Rita
Journal:
FASEB journal
Issue:
Volume 28:Issue 6(2014)
Page Start:
2686
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗