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American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.Journal of Inherited Metabolic Disease|September 16, 2011
A series of pregnancies in women with inherited metabolic diseaseJanneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.International Journal of Molecular Sciences|June 24, 2022
Col4a3 Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 BackgroundsCamila I Irion, Monique Williams, Jose Condor Capcha, et al.Scientific Reports|October 20, 2018
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer RegionMonique Williams, Alberto Burlina, Laura Rubert, et al.Tobacco Control|June 1, 2023
Policy-relevant differences between secondhand and thirdhand smoke: strengthening protections from involuntary exposure to tobacco smoke pollutantsGeorg E Matt, Lydia Greiner, Rachael A Record, et al.European Journal of Human Genetics : EJHG|June 23, 2016
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerationsRachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen, et al.Journal of Inherited Metabolic Disease|July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort studyWillemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.Journal of Inherited Metabolic Disease|April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the NetherlandsEmmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.Journal of the American Heart Association|September 3, 2022
Mouse Model of Heart Failure With Preserved Ejection Fraction Driven by Hyperlipidemia and Enhanced Cardiac Low-Density Lipoprotein Receptor ExpressionMonique Williams, Jose Manuel Condor Capcha, Camila Iansen Irion, et al.Seizure|January 23, 2017
Ketogenic diet therapy for epilepsy during pregnancy: A case seriesElles J T M van der Louw, Tanya J Williams, Bobbie J Henry-Barron, et al.Pageof 17