Zobrazeno 1 - 2
of 2
pro vyhledávání: '"ANA CRISTINA S PUGA"'
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 58, Iss 3A, Pp 597-606 (2000)
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ul
Externí odkaz:
https://doaj.org/article/129f2f4031a24dd897252eafbec66afb
Publikováno v:
Clinical dysmorphology. 13(4)
Infantile Systemic Hyalinosis (ISH) is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. Recently, mutations in the capillary morphogenesis gene-2 (CMG-2), a transmembra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a321ddfbcf47cc12640125fd605fd5d
https://pubmed.ncbi.nlm.nih.gov/15365459
https://pubmed.ncbi.nlm.nih.gov/15365459