Zobrazeno 1 - 1
of 1
pro vyhledávání: '"G. E. Shcherbakov"'
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 4 (2024)
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease,
Externí odkaz:
https://doaj.org/article/22d5a677ed434308a021d58dd7edf9a2
