Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Kizhakethil Velliyatil Sajitha"'
Publikováno v:
BMJ case reports. 14(7)
L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase (L2HGDH) enzyme. Dystonia, ataxia, pyramidal involvement and seizures are the common clinical ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e82ecc74d4e552f2707907cc5f7e35d
https://pubmed.ncbi.nlm.nih.gov/34330727
https://pubmed.ncbi.nlm.nih.gov/34330727
