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Author/Creator Berry, Gerard T.

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
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3. 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
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4. A retrospective study of adult patients with noncirrhotic hyperammonemia. Issue 6 (16th August 2020)

Authors:
Stergachis, Andrew B.; Mogensen, Kris M.; Khoury, Charbel C.; Lin, Alexander P.; Peake, Roy WA.; Baker, Joshua J.; Barkoudah, Ebrahim; Sahai, Inderneel; Sweetser, David A.; Berry, Gerard T.; Krier, Joel B.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1165
Record Type:
Journal Article
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9. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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10. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. Issue 4 (27th February 2020)

Authors:
Brucker, William J.; Croteau, Stacy E.; Prensner, John R.; Cullion, Kate; Heeney, Matthew M.; Lo, Jeffrey; McAlvin, James B.; Peeler, Katherine; Shah, Nidhi; Yee, Christina S. K.; Berry, Gerard T.; Bodamer, Olaf
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
880
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗