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European Journal of Human Genetics : EJHG|May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsG Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 17, 2020
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspotsSuzan J G Knottnerus, Mia L Pras-Raves, Maria van der Ham, et al.Human Mutation|March 19, 2013
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharingAnnet Sollie, Rolf H Sijmons, Dick Lindhout, et al.Frontiers in Pharmacology|February 18, 2021
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine SupplementationArie O Verkerk, Suzan J G Knottnerus, Vincent Portero, et al.Journal of Inherited Metabolic Disease|June 25, 2010
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentageMonique Albersen, Marjolein Bonthuis, Nicole M de Roos, 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.Biochimica Et Biophysica Acta. Molecular Basis of Disease|September 22, 2024
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disordersSanne G S Verberk, Nico Hahn, Daan Heister, et al.Journal of Inherited Metabolic Disease|April 11, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathyMarit Schwantje, Merel S Ebberink, Mirjam Doolaard, et al.JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.Pageof 9