Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

238 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A founder noncoding GALT variant interfering with splicing causes galactosemia.
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G. Latchman K, et al. Among authors: hacker s. J Inherit Metab Dis. 2020 Nov;43(6):1199-1204. doi: 10.1002/jimd.12293. Epub 2020 Aug 21. J Inherit Metab Dis. 2020. PMID: 32748411
COVID-19 in a child with severe propionic acidemia.
Saad-Naguib M, Barbouth D, Thorson W, Hacker S, Tekin M. Saad-Naguib M, et al. Among authors: hacker s. Pediatr Int. 2021 May;63(5):606-607. doi: 10.1111/ped.14633. Pediatr Int. 2021. PMID: 34002470 Free PMC article. No abstract available.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: hacker s. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
238 results