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Author/Creator Hacker, Stephanie

1. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. Issue 6 (26th September 2022)

Authors:
Katler, Quinton S.; Stepien, Karolina M.; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T.; Bosch, Annet M.; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, B...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 6(2022)
Page Start:
1106
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A founder noncoding GALT variant interfering with splicing causes galactosemia. Issue 6 (21st August 2020)

Authors:
Latchman, Kumarie; Brown, Jeanette; Sineni, Claire J.; Ragin‐Dames, Lorrien; Guo, Shengru; Huang, Jingyu; Thorson, Willa; Hacker, Stephanie; Barbouth, Deborah; Tekin, Mustafa; Bademci, Guney
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1199
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗