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ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS |
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Author(s): BOZORGMEHR BITA*,KARIMINEJAD ARIANA,NAFISSI SHAHRIAR,JEBELLI BITA,ANDONI URTIZBEREA,GARTIOUX CORINE,CELINE LEDEUIL,ALLAMAND VALERIE,PASCALE RICHARD |
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Keyword(s): ULLRICH CONGENITAL MUSCULAR DYSTROPHY, COLLAGEN TYPE VI, COL6A1, COL6A2 |
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METHYLMALONIC ACIDEMIA: DIAGNOSIS AND NEUROIMAGING FINDINGS OF THIS NEUROMETABOLIC DISORDER (AN IRANIAN PEDIATRIC CASE SERIES) |
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Author(s): KARIMZADEH PARVANEH,JAFARI NARJES*,AHMAD ABADI FARZAD,JABBEDARI SAYENA,TAGHDIRI MOHAMMAD MAHDI,NEMATI HAMID,SAKET SASAN,SEYED FAKHREDDIN SHARIATMADARI,ALAEE MOHAMMAD REZA,GHOFRANI MOHAMMAD,TONEKABONI SEYED HASSAN |
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Keyword(s): METHYLMALONIC ACIDEMIA, NEUROMETABOLIC DISORDER, DEVELOPMENTAL DELAY, EARLY DETECTION |
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