1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

A Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Pa...

Katler, Q; Stepien, K; Paull, N; Patel, S; Adams, M; Balci, M; Berry, G; Bosch, A; DeLaO, A; Demirbas, D; Edman, J; Ficicioglu, C; Goff, M; Hacker, S

Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and l...

Date: 2022   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author





















Date


Document Type


Access rights


Resource


Subject