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Works (17)

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease

International Journal of Molecular Sciences
2024-11 | Journal article | Author
Contributors: Hugo David; Jlenia Monfregola; Isaura Ribeiro; Maria Teresa Cardoso; Ana Catarina Assunção Sandiares; Luciana Moreira; Maria Francisca Coutinho; Dulce Quelhas; Andrea Ballabio; Alves S et al.
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Multidisciplinary Digital Publishing Institute

Leukocyte Imbalances in Mucopolysaccharidoses Patients

Biomedicines
2023-06 | Journal article | Author
Contributors: Nuno Lopes; M Luz Maia; Cátia S. Pereira; Inês Mondragão-Rodrigues; Esmeralda Martins; Rosa Ribeiro; Ana Gaspar; Patrício Aguiar; Paula Garcia; Maria Teresa Cardoso et al.
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Multidisciplinary Digital Publishing Institute
grade
Preferred source (of 2)‎

Las enfermedades raras en Portugal desde la perspectiva de medicina interna

Galicia Clínica
2021 | Journal article
SOURCE-WORK-ID:

cv-prod-id-4103130

Part of ISSN: 0304-4866
Contributors: Cardoso, M Teresa; Corresponding author: Cardoso, M Teresa.
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CIÊNCIAVITAE

Atypical Location of Tophaceous Gout

Clin Image Case Report J. 2021
2021-02-24 | Journal article
SOURCE-WORK-ID:

cv-prod-id-4103245

Contributors: Cardoso, M Teresa
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CIÊNCIAVITAE

Cutaneous Angiosarcoma in an Unusual Location and Without Predisposing Factors

European Journal of Case Reports in Internal Medicine
2020-09-25 | Journal article
SOURCE-WORK-ID:

cv-prod-id-4103226

Part of ISSN: 2284-2594
Contributors: Ana Oliveira Monteiro; Inês Branco Ferreira; Artur César; Alberto Mota; Jorge Pinheiro; José Manuel Lopes; Cardoso, M Teresa
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CIÊNCIAVITAE

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

Molecular Genetics & Genomic Medicine
2020-09-15 | Journal article
Part of ISSN: 2324-9269
Source: Self-asserted source
Maria Teresa Cardoso
grade
Preferred source (of 2)‎

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

International Journal of Molecular Sciences
2020-09-01 | Journal article
Part of ISSN: 1422-0067
Source: Self-asserted source
Maria Teresa Cardoso
grade
Preferred source (of 2)‎

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

European Journal of Medical Genetics
2020-02 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1596707

Contributors: Oliveira, João P.; Nowak, Albina; Barbey, Frédéric; Torres, Márcia; Nunes, José P.; Teixeira-e-Costa, Fernando; Carvalho, Fernanda; et al.
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CIÊNCIAVITAE

Acidente Vascular Cerebral

Risco Vascular em 2018
2019 | Book chapter
SOURCE-WORK-ID:

cv-prod-id-1624560

Contributors: Cardoso, M Teresa
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CIÊNCIAVITAE

Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin

Nature Immunology
2019-10-21 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1622983

Contributors: Melum, Espen; Jiang, Xiaojun; Baker, Kristi D.; Macedo, M. Fatima; Fritsch, Jürgen; Dowds, C. Marie; Wang, Jing; et al.
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CIÊNCIAVITAE

Glycogen Storage Disease Type IV: A manifestingheterozygous through a mild late onset phenotype withhepatic and myopathic presentation

SSIEM 2019: Annual Symposium of the Society for theStudy of Inborn Errors of Metabolism
2019-09-03 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-1624892

Contributors: Cardoso, M Teresa; Castro-Chaves, Paulo; Pintalhao M; Abreu, Pedro; Vasconcelos, M.; Leao M; Rodrigues, Esmeralda; Leão-Teles, Elisa
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CIÊNCIAVITAE

Education and training in adult metabolic medicine: Results of an international survey

JIMD Reports
2019-06-21 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1623128

Contributors: Sechi, Annalisa; Fabbro, Elisa; Langeveld, Mirjam; Tullio, Annarita; Lachmann, Robin; Mochel, Fanny; Maria Teresa Cardoso
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CIÊNCIAVITAE

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in Immunology
2019-06-04 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1595617

Contributors: Pereira, Catia S.; Pérez-Cabezas, Begoña; Ribeiro, Helena; Maia, M. Luz; Cardoso, M. Teresa; Dias, Ana F.; Azevedo, Olga; et al.
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CIÊNCIAVITAE

Acidente Vascular Cerebral

Risco Vascular em 2016/2017
2018 | Book chapter
SOURCE-WORK-ID:

cv-prod-id-1624680

Contributors: Cardoso, M Teresa; Paulo Castro Chaves
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CIÊNCIAVITAE

The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner

Molecular Genetics and Metabolism
2018-09 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1624715

Contributors: Pereira, C.S.; Ribeiro, H.; Pérez-Cabezas, B.; Cardoso, M.T.; Alegrete, N.; Gaspar, A.; Leão-Teles, E.; Macedo, M.F.
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CIÊNCIAVITAE

Natural history of two adult LALD siblings: 25 years of follow-up. 745

ICIEM 2017: 13th International Congress of Inborn Errors of Metabolism
2017-09-05 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-1624965

Contributors: Cardoso, M Teresa
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CIÊNCIAVITAE

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

Journal of Inherited Metabolic Disease
2013-06-08 | Journal article
SOURCE-WORK-ID:

cv-prod-id-1622396

Part of ISSN: 0141-8955
Part of ISSN: 1573-2665
Contributors: Coelho, Ana I.; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; et al.
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CIÊNCIAVITAE