2013
3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, Kleefstra T, Tranebjaerg L, de Vries M, Isohanni P, Walter K, Alkuraya F, Smuts I, Reinecke C, van der Westhuizen F, Thorburn D, Smeitink J, Morava E, Wevers R. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Journal Of Inherited Metabolic Disease 2013, 36: 913-921. PMID: 23355087, DOI: 10.1007/s10545-012-9579-6.Peer-Reviewed Original ResearchConceptsMetabolic disordersMitochondrial dysfunctionElevated urinary excretionRoutine metabolic screeningPatient cohortUrinary excretionPatientsMitochondrial DNA depletionMetabolic screeningHydratase deficiencyInborn errorsRelated pathologiesUrine samplesDisordersAciduriaDysfunctionDNA depletionLeucine degradationRespiratory chain complex deficienciesMitochondrial disordersCommon denominatorComplex deficiencySERAC1Consistent featureOPA3
2012
Notch and disease: A growing field
Louvi A, Artavanis-Tsakonas S. Notch and disease: A growing field. Seminars In Cell And Developmental Biology 2012, 23: 473-480. PMID: 22373641, PMCID: PMC4369912, DOI: 10.1016/j.semcdb.2012.02.005.Peer-Reviewed Original ResearchConceptsCellular fate choicesAdult stem cellsInvolvement of NotchFate choiceNotch receptorsHuman diseasesNormal developmentPleiotropic fashionStem cellsRational therapeutic avenueBiologyTherapeutic avenuesBroad actionPathwayProfound involvementComplex controlExperimental systemNotchRelated pathologiesCellsReceptorsPathobiology
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