Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

By Alves S.   Mangas M.   Prata M.   Ribeiro G.   Lopes L.   Ribeiro H.   Pinto-Basto J.   Lima M.   Lacerda L.  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 6, 2006-12 ,pp. : 743-754

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

By Vilaseca M.   Vilarinho L.   Zavadakova P.   Vela E.   Cleto E.   Pineda M.   Coimbra E.   Suormala T.   Fowler B.   Kozich V.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 361-369

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Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

By Vatanavicharn N.   Kuptanon C.   Liammongkolkul S.   Liu T.-T.   Hsiao K.-J.   Ratanarak P.   Blau N.   Wasant P.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 279-282

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Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations

By Banghova Karolina  

European Journal of Pediatrics, Vol. 167, Iss. 7, 2008-07 ,pp. : 777-783

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Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene

By Bekri S.   Armana G.   Ricaud D.   Osenda M.   Maire I.   Obberghen E.   Froissart R.  

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