Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Giardina, T.G."'
Autor:
Van Coster, R.N., Gerlo, E.A., Giardina, T.G., Engelke, U.F., Smet, J.E., De Praeter, C.M., Meersschaut, V.A., De Meirleir, L.J., Seneca, S.H., Devreese, B., Leroy, J.G., Herga, S., Perrier, J.P., Wevers, R.A., Lissens, W.
Publikováno v:
In Biochemical and Biophysical Research Communications 2005 338(3):1322-1326
Autor:
Calvin, J., Wevers, R.a., Engelke, U., Lissens, Willy, Perrier, J., Giardina, T.g., Smet, Joél, Hogg, S., Abulhoul, L., Puthi, V., Van Coster, Rudy
We present with two members of a consanguineous Pakistani family with biochemical evidence of aminoacylase I deciency (ACY1D, MIM609924) yet disparate phenotypes. The proband (at 3 years) is profoundly hypotonic with severe developmental delay. Fathe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::4b0abc00c8ba143d64cc5149cdd1995a
https://biblio.vub.ac.be/vubir/nacetylamino-aciduria-a-benign-biochemical-finding(97f8fb4a-65f4-4236-b769-b5c23928c2ae).html
https://biblio.vub.ac.be/vubir/nacetylamino-aciduria-a-benign-biochemical-finding(97f8fb4a-65f4-4236-b769-b5c23928c2ae).html
