Works by Ames, Elizabeth G

Results: 7

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 8, p. 1, doi. 10.1210/jendso/bvaf091

By:

Chase, Colby L;
Accardo, Marie-Louise;
Greve, Veronica;
Ames, Elizabeth G;
Quinonez, Shane C;
Scott, Anthony;
Hipp, Lauren;
Damon, Jenna;
Uhlmann, Wendy R;
Broome, David T;
Foss-Freitas, Maria C;
Akinci, Baris;
Neidert, Adam H;
Narla, Goutham;
Oral, Elif A;
Lee, Kristen N

Publication type:

Article

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63778

By:

Owlett, Laura D.;
Zapanta, Bianca;
Sandkuhler, Sarah E.;
Ames, Elizabeth G.;
Hickey, Scott E.;
Mackenzie, Samuel J.;
Meisner, Joshua K.

Publication type:

Article

Programmed Cell Death in Cystinosis.

Published in:

Cells (2073-4409), 2022, v. 11, n. 4, p. 670, doi. 10.3390/cells11040670

By:

Ames, Elizabeth G.;
Thoene, Jess G.

Publication type:

Article

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

Published in:

Children, 2023, v. 10, n. 1, p. 106, doi. 10.3390/children10010106

By:

Bupp, Caleb P.;
Ames, Elizabeth G.;
Arenchild, Madison K.;
Caylor, Sara;
Dimmock, David P.;
Fakhoury, Joseph D.;
Karna, Padmani;
Lehman, April;
Meghea, Cristian I.;
Misra, Vinod;
Nolan, Danielle A.;
O'Shea, Jessica;
Sharangpani, Aditi;
Franck, Linda S.;
Scheurer-Monaghan, Andrea

Publication type:

Article

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.

Published in:

Pediatric Nephrology, 2020, v. 35, n. 9, p. 1761, doi. 10.1007/s00467-020-04533-3

By:

Ames, Elizabeth G.;
Luckritz, Kera E.;
Ahmad, Ayesha

Publication type:

Article

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2704, doi. 10.1002/ajmg.a.61815

By:

Ames, Elizabeth G.;
Scott, Anthony J.;
Pappas, Kara B.;
Moloney, Shawn M.;
Conway, Robert L.;
Ahmad, Ayesha

Publication type:

Article

Results of the ACTION‐Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Published in:

Journal of Clinical Pharmacology, 2025, v. 65, n. 5, p. 575, doi. 10.1002/jcph.6170

By:

Bailey, Evan;
Phan, Han;
Ahmad, Ayesha;
Thomas, Janet;
Ames, Elizabeth G.;
Pritchard, Amanda B.;
Quinonez, Shane C.;
Wang, Stella;
Dayley, Caleb;
Salt, Andrew;
Pick, Christina;
Durrant, Abe;
Johnson, Samuel;
Nicodemus‐Johnson, Jessie;
Dickson, Samuel P.;
Perfetti, Riccardo;
Hendrix, Suzanne B.;
Shendelman, Shoshana

Publication type:

Article