2019
MitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. MitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction. Mitochondrion 2019, 47: 309-317. PMID: 30831263, DOI: 10.1016/j.mito.2019.02.006.Peer-Reviewed Original ResearchConceptsMitochondrial diseaseWhole mitochondrial genomeNext-generation sequencing strategyMitochondrial genomePathogenic variantsCustom gene panelSequencing strategyMitochondrial dysfunctionMolecular analysisMutational landscapeNGS strategyNovel pathogenic variantsPhenotypic heterogeneityEffective therapeutic optionHigh diagnostic yieldGene panelMolecular diagnosisVariantsAdult patientsGenomeTherapeutic optionsUnknown significanceDiagnostic yield
2016
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 2016, 63: 1977-1986. PMID: 26874653, PMCID: PMC4874872, DOI: 10.1002/hep.28499.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsCattleChildChild, PreschoolDNA Mutational AnalysisDogsFemaleGenes, RecessiveHomozygoteHumansHypertension, PortalInfantLiver FailureMaleMolecular Sequence DataPedigreePhosphotransferases (Alcohol Group Acceptor)Principal Component AnalysisRatsYoung AdultConceptsIdiopathic noncirrhotic portal hypertensionNoncirrhotic portal hypertensionPortal hypertensionHuman immunodeficiency viral infectionNoncirrhotic liver diseaseStable portal hypertensionSubset of patientsTreatment of patientsNucleoside analog didanosineLiver failureIndeterminate etiologyLiver diseaseHypertensionKinase levelsNew genetic testsViral infectionMechanisms mediatingDGUOK deficiencyPhenotypic spectrumSpecific causesDeoxyguanosine kinaseExome sequencingPatientsConsanguineous familyFunction mutations
2010
Neonatal cholestasis: an uncommon presentation of hyperargininemia
Martins E, Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. Journal Of Inherited Metabolic Disease 2010, 33: 503-506. PMID: 21229317, DOI: 10.1007/s10545-010-9263-7.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acids, EssentialArginaseArginineBiomarkersChildChild DevelopmentChild, PreschoolCholestasisDiet, Protein-RestrictedDisease ProgressionEnd Stage Liver DiseaseFemaleGenetic Predisposition to DiseaseHumansHyperargininemiaHypertension, PortalInfantInfant, NewbornLiver Cirrhosis, BiliaryLiver TransplantationNeonatal ScreeningPhenotypeTreatment OutcomeConceptsNeonatal cholestasisLiver diseaseSuccessful orthotopic liver transplantEnd-stage liver diseaseFurther evaluationProgressive biliary cirrhosisInitial clinical presentationOrthotopic liver transplantProgressive spastic paraparesisCholestatic liver diseaseYears of ageMonths of ageRare inborn errorLiver transplantPortal hypertensionBiliary cirrhosisNeurological examinationClinical presentationUncommon presentationInjury patternsSpastic paraparesisUnexplained cholestasisNeonatal presentationDifferential diagnosisFirst presentation