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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A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-α-D-glucosaminidase deficiency in Schipperke dogs

By Ellinwood N.   Wang P.   Skeen T.   Sharp N.   Cesta M.   Decker S.   Edwards N.   Bublot I.   Thompson J.   Bush W.   Hardam E.   Haskins M.   Giger U.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 489-504

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Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay

By Yap S.   Monavari A.A.   Thornton P.   Naughten E.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 2, 1998-04 ,pp. : 175-176

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A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset

By Nordenström A.   Halldin M.   Hallberg B.   Alm J.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 400-400

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A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

By Vallance H.   Jeven G.   Wallace D.   Brown M.  

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