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Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene

Title
Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene
Type
Another Publication in a National Scientific Journal
Year
2025
Authors
José Pedro Nunes
(Author)
FMUP
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Ricardo Soares-dos-Reis
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Maria do Sameiro Faria
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Elisabete Martins
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Teresa Pinho
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
João Rebelo
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Rute N. Fonseca
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Martin Balboa López
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Susana Ferreira
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
João Paulo Oliveira
(Author)
FMUP
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Journal
ISSN: 2444-8664
Publisher: Wolters Kluwer
Other information
Authenticus ID: P-019-37E
Resumo (PT):
Abstract (EN):
Language: English
Type (Professor's evaluation): Scientific
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