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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A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom

By Chabás A.   Duque J.   Gort L.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 1, 2007-02 ,pp. : 108-108

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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.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 235-239

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Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

By Longo N.   Fukao T.   Singh R.   Pasquali M.   Barrios R. G.   Kondo N.   Gibson K. M.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 5, 2004-01 ,pp. : 691-692

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Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation

By Novosel Astrid   Heger Alfred   Lohse Peter   Schmidt Heinrich  

European Journal of Pediatrics, Vol. 163, Iss. 12, 2004-12 ,pp. : 701-703

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