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Journal of Inherited Metabolic Disease|February 12, 2019
Inborn errors of coenzyme A metabolism and neurodegenerationIvano Di Meo, Miryam Carecchio, Valeria TirantiJournal of Inherited Metabolic Disease|February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patientsMonique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Influence of implementing a protocol for an intravenously administered ammonia scavenger on the management of acute hyperammonemia in a pediatric intensive care unitDavid Brossier, Isabelle Goyer, Lydia Ziani, et al.Journal of Inherited Metabolic Disease|February 5, 2019
Growth impairment in individuals with citrin deficiencyChikahiko Numakura, Gen Tamiya, Masao Ueki, et al.Journal of Inherited Metabolic Disease|December 6, 2019
Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disordersHanneke A Haijes, Jaak Jaeken, Peter M van HasseltJournal of Inherited Metabolic Disease|January 14, 2020
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiencyThomas Boehm, Holger Hubmann, Karin Petroczi, et al.Journal of Inherited Metabolic Disease|January 20, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Gepke Visser, Kieran Clarke, et al.Journal of Inherited Metabolic Disease|December 18, 2019
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mousePablo Ranea-Robles, Chunli Yu, Naomi van Vlies, et al.Journal of Inherited Metabolic Disease|September 4, 2020
The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of ratsNícolas Manzke Glänzel, Mateus Grings, Nevton Teixeira da Rosa-Junior, et al.Pageof 429