Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

By Ostergaard E.   Moller L.   Kalkanoglu-Sivri H.   Dursun A.   Kibaek M.   Thelle T.   Christensen E.   Duno M.   Wibrand F.  

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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8 ) deficiency syndrome

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

By Ida H.   Rennert O.M.   Kawame H.   Maekawa K.   Eto Y.  

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PDH E₁β deficiency with novel mutations in two patients with Leigh syndrome

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Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract

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