Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eleni M. Michelakaki"'
Autor:
Athanasia Anastasiou, Eleni M. Michelakaki, George Katzos, Dimitrios I. Zafeiriou, Persa A. Augoustidou-Savvopoulou, Eleftherios E. Kontopoulos
Publikováno v:
Brain and Development. 19:488-491
Early infantile Krabbe disease is a progressive neurodegenerative disease caused by deficiency of lysosomal enzyme galactocerebroside beta-galactosidase, with onset before the age of 6 months. We present serial clinical, radiological and neurophysiol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c508858442a3bf1581a30d7aec1b3ee2
https://doi.org/10.1016/s0387-7604(97)00049-1
https://doi.org/10.1016/s0387-7604(97)00049-1
Autor:
Euthymia Vlachaki, Eleni M. Michelakaki, Miranta Athanassiou-Mataxa, Maria Aggelaki, Dimitrios I. Zafeiriou, Marina Economou, Panagiota Triantafyllou
Publikováno v:
Pediatric neurology. 50(6)
Introduction X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression. Patient Descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b21330aeebe6b050390f38069c6fe0f
https://pubmed.ncbi.nlm.nih.gov/24685009
https://pubmed.ncbi.nlm.nih.gov/24685009
Autor:
Anastasia L. Anastasiou, Eleni M. Michelakaki, Dimitrios I. Zafeiriou, Eleftherios E. Kontopoulos, Nikos Gombakis
Publikováno v:
Pediatric Neurology. 15:240-244
We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was mad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7aa9c0f863bd69fd9f611f1af449b9d
https://doi.org/10.1016/s0887-8994(96)00168-3
https://doi.org/10.1016/s0887-8994(96)00168-3
Autor:
Euthymia Vargiami, Dimitrios I. Zafeiriou, Chaido Tsantali, Panagiota Triantafyllou, N. Gombakis, Eleni M. Michelakaki
Publikováno v:
Pediatric Neurology. 29:242-244
Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e96c0a83eac982eb858a0060c716e8
https://doi.org/10.1016/s0887-8994(03)00219-4
https://doi.org/10.1016/s0887-8994(03)00219-4