Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elena Emanuela Braha"'
Autor:
Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț, Alina Costina Luca
Publikováno v:
Diagnostics, Vol 14, Iss 5, p 491 (2024)
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency a
Externí odkaz:
https://doaj.org/article/480718db861a49fe9175c58b96e4f112
Autor:
Monica-Cristina Pânzaru, Lavinia Caba, Laura Florea, Elena Emanuela Braha, Eusebiu Vlad Gorduza
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1325 (2022)
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural leve
Externí odkaz:
https://doaj.org/article/beb061c65c124e748f5186162d2f56fe
Publikováno v:
Journal of multidisciplinary healthcare. 15
Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e03907064848914e28851c74ba3b7e8
https://pubmed.ncbi.nlm.nih.gov/36193191
https://pubmed.ncbi.nlm.nih.gov/36193191
Autor:
Alina-Costina Luca, Alexandrina-Stefania Curpan, Elena Emanuela Braha, Elena Ţarcă, Alin-Constantin Iordache, Florin-Alexandru Luca, Heidrun Adumitrachioaiei
Publikováno v:
Healthcare; Volume 10; Issue 12; Pages: 2452
Childhood obesity has become a global public health issue and its assessment is essential, as an obese child is a future overweight or obese adult. Obesity is no longer a matter of exercising more and eating less, with several factors coming into pla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eeadbed93c8e6b2bbad13e44feaf4c5
https://doi.org/10.3390/healthcare10122452
https://doi.org/10.3390/healthcare10122452