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Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.Journal of Neurogenetics|May 3, 2017
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotypeFanggeng Zou, Kirsty McWalter, Lindsay Schmidt, et al.Nature Genetics|August 3, 2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert Kleta, Elisa Romeo, Zorica Ristic, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disabilityGlen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, 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.The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.Pageof 9