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JIMD Reports|September 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formulaJulia A Sabatino, Danielle Starin, Shamir Tuchman, et al.
Molecular Genetics and Metabolism|November 13, 2025
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complicationsKimberly A Chapman, Nicholas Ah Mew, Nina Mickle, et al.
Molecular Genetics and Metabolism Reports|June 27, 2022
Maple syrup urine disease decompensation misdiagnosed as a psychotic eventTomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 11, 2021
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providersAndrea J Cohen, Natasha Shur, Danielle Starin, et al.
Molecular Genetics and Metabolism Reports|August 25, 2021
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinicsDarius Adams, Hans C Andersson, Heather Bausell, et al.
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