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Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Science (New York, N.Y.)|September 29, 2022
Structure-based discovery of nonopioid analgesics acting through the α2A-adrenergic receptorElissa A Fink, Jun Xu, Harald Hübner, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMatthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, et al.
Current Medical Research and Opinion|March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic diseaseChristian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion|August 22, 2018
Management of Lymphomas: Consensus Document 2018 by an Indian Expert GroupReena Nair, Abhishek Kakroo, Ajay Bapna, et al.
Orphanet Journal of Rare Diseases|April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyVassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Journal of Inherited Metabolic Disease|October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyAndrew A M Morris, Viktor Kožich, Saikat Santra, et al.
Atherosclerosis|November 26, 2022
Trans-interaction of risk loci 6p24.1 and 10q11.21 is associated with endothelial damage in coronary artery diseaseKai Yi Tay, Kan Xing Wu, Florence Wen Jing Chioh, et al.
ACS Medicinal Chemistry Letters|May 26, 2015
Design of Pyridopyrazine-1,6-dione γ-Secretase Modulators that Align Potency, MDR Efflux Ratio, and Metabolic StabilityMartin Pettersson, Douglas S Johnson, John M Humphrey, et al.
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