Search

Author/Creator Demirbas, Didem

1. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. Issue 1 (17th June 2019)

Authors:
Bedoyan, Jirair K.; Hecht, Leah; Zhang, Shulin; Tarrant, Stacey; Bergin, Ann; Demirbas, Didem; Yang, Edward; Shin, Ha Kyung; Grahame, George J.; DeBrosse, Suzanne D.; Hoppel, Charles L.; Kerr, Douglas S.; Berry, Gerard T.
Journal:
JIMD reports
Issue:
Volume 48:Issue 1(2019)
Page Start:
26
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. 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) ↗

6. The hypergonadotropic hypogonadism conundrum of classic galactosemia. (13th December 2022)

Authors:
Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T
Journal:
Human reproduction update
Issue:
Volume 29:Number 2(2023)
Page Start:
246
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗