Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies

By Funghini S.   Morrone A.   Pasquini E.   Zammarchi E.   Donati M.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 801-802

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Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

By Niers L.   Heuvel L. van den   Trijbels F.   Sengers R.   Smeitink J.   Smeitink J.  

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Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

By Tammachote R.   Tongkobpetch S.   Desudchit T.   Suphapeetiporn K.   Shotelersuk V.  

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Glycine N-methyltransferase deficiency: A new patient with a novel mutation

By Augoustides-Savvopoulou P.   Luka Z.   Karyda S.   Stabler S. P.   Allen R. H.   Patsiaoura K.   Wagner C.   Mudd S. H.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 8, 2003-01 ,pp. : 745-759

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Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G

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