Zobrazeno 1 - 10
of 247
pro vyhledávání: '"Vargiami E"'
Autor:
Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou DI
Publikováno v:
Balkan Journal of Medical Genetics, Vol 19, Iss 1, Pp 85-90 (2016)
Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report ne
Externí odkaz:
https://doaj.org/article/2300d917353c4c84bff6e5fe85b0771b
Publikováno v:
In Molecular Genetics and Metabolism 2009 97(1):18-20
Autor:
Christina Sidira, Athanasios Notopoulos, D.I. Zafeiriou, Kyriazi M, Vargiami E, Stella Stabouli, Anastasiou A
Background Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterised by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7a4dd84ffa626b99a951fa918e5ae38
https://doi.org/10.21203/rs.3.rs-444696/v1
https://doi.org/10.21203/rs.3.rs-444696/v1
Background: The neurodevelopmental impairment in tuberous sclerosis complex (TSC) has a multifactorial origin. Various factors have been proposed as predictors of neurological outcome such as tuber load, seizure onset, and TSC2 mutation. Cerebellar l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c61f4eaa44a70bac8bfac102ea89d82a
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997030
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997030
The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::5bc42eb0435a8a7614563d958f0a25f8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121037
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121037
Akademický článek
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Publikováno v:
Scopus-Elsevier
Europe PubMed Central
Europe PubMed Central
Background: Gaucher disease (GD) is a lysosomal storage disorder characterized by severe skeletal complications. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. The objective o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7f78f82c11141381c223693cfbfb5ca3
https://europepmc.org/articles/PMC5388517/
https://europepmc.org/articles/PMC5388517/
Autor:
Printza, N., Vargiami, E., Kondou, A., Dotis, J., Stabouli, S., Tsikopoulos, G., Zafeiriou, D.
Publikováno v:
In Journal of Pediatric Urology May 2019 15(3):291-292
Akademický článek
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Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e171-e171