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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Gastroenterology|November 26, 2013
Methotrexate in combination with infliximab is no more effective than infliximab alone in patients with Crohn's diseaseBrian G Feagan, John W D McDonald, Remo Panaccione, et al.
Journal of Hepatology|July 5, 2014
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiencyVassili Valayannopoulos, Vera Malinova, Tomas Honzík, et al.
The International Journal on Drug Policy|December 6, 2025
A descriptive study of drug overdose epidemics, overdose prevention efforts, and opioid settlement fund distribution across six statesZongbo Li, Tanvi V Chiddawar, Leah C Shaw, et al.
Cancer|May 24, 2023
Stereotactic ablative radiotherapy before resection to avoid delay for early-stage lung cancer or oligometastases during the COVID-19 pandemic: Pathologic outcomes from the SABR-BRIDGE protocolBiniam Kidane, Ian J Gerard, Jonathan Spicer, et al.
Lancet Regional Health. Americas|September 23, 2024
Impact of being taken into out-of-home care: a longitudinal cohort study of First Nations and other child welfare agencies in Manitoba, CanadaMarni Brownell, Nathan C Nickel, Kayla Frank, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Molecular Genetics and Metabolism|February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiencyYael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
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