Zobrazeno 1 - 10
of 278
pro vyhledávání: '"H. Michelakakis"'
Autor:
A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease (IWGGD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its dea
Externí odkaz:
https://doaj.org/article/b446cd8c239842e9a8d37b8ab7ef865e
Autor:
A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100829- (2022)
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transpla
Externí odkaz:
https://doaj.org/article/47342a33debc4355a71a55b58b6541ec
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 2-4 (2014)
Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable seve
Externí odkaz:
https://doaj.org/article/a8f4b0a673034764af6ea10f8fda2072
Autor:
A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022)
Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022)
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transpla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33a1b0112f6a9e9aed11633d7f3ed0be
https://pubmed.ncbi.nlm.nih.gov/34926160
https://pubmed.ncbi.nlm.nih.gov/34926160
Akademický článek
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Publikováno v:
Neonatology. 77:25-28
Carnitine is a key molecule in energy production from various substrates. Although it is generally believed that it plays no role in the metabolism of medium-chain triglycerides, quite a few data exist to the contrary. In the present study we investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73058b517301a9d17ebca91ec1736ff1
https://doi.org/10.1159/000014191
https://doi.org/10.1159/000014191
Autor:
I. Raptis, C. Zouboulis, A. Filiotou, J. Koskinas, H. Michelakakis, Andreas Kaloterakis, S. Hadziyannis
Publikováno v:
Journal of Internal Medicine. 246:587-590
Chronic Gaucher disease [GD] in association with systemic AL amyloidosis is extremely rare. We describe a 46-year-old Greek male with chronic GD confirmed by low glucocerebroside activity in fibroblasts and N370S/L444P mutations at the cerebrosidase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd3a348d507a77c93a64270f5655032c
https://doi.org/10.1046/j.1365-2796.1999.00607.x
https://doi.org/10.1046/j.1365-2796.1999.00607.x
Akademický článek
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Autor:
I, Mavridou, M, Cozar, S, Douzgou, A, Xaidara, D, Lianou, M T, Vanier, E, Dimitriou, D, Grinberg, L, Vilageliu, H, Michelakakis
Publikováno v:
Clinical genetics. 85(6)
Niemann-Pick type C (NPC) disease is a rare autosomal recessive lysosomal storage disease, exhibiting an extremely heterogeneous clinical phenotype. It is a cellular lipid trafficking disorder characterized by the accumulation in the lysosomal/late e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d18c2512e4594393ffc1cbc7a84f3e32
https://pubmed.ncbi.nlm.nih.gov/23701245
https://pubmed.ncbi.nlm.nih.gov/23701245
Akademický článek
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