Brain MRI and biological diagnosis in five Tunisians MLD patients.docVIP

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Brain MRI and biological diagnosis in five Tunisians MLD patients.doc

Brain MRI and biological diagnosis in five Tunisians MLD patients

Barbouraetal.DiagnosticPathology2012,7:11 /content/7/1/11 RESEARCH OpenAccess BrainMRIandbiologicaldiagnosisinfive TunisiansMLDpatients IlhemBarboura1*,SamirHadded2,SaberChebel3,RachidaBenMansour1,HindaChahed1, Mohamed-NéjiGueddiche2,MahboubaFrih-Ayed3,SalimaFerchichi1andAbdelhédiMiled1 Abstract Metachromaticleukodystrophy(MLD)isarecessiveautosomaldiseasewhichischaracterizedbyanaccumulation ofsulfatidesinthecentralandperipheralnervoussystem.Itisduetotheenzymedeficiencyofthesulfatide sulfatasei.e.arylsulfataseA(ASA).westudied5/200casesofMLDandclearlydistinguishedthreeclinicalforms. Oneofthemp

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