Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

By Mills K.   Morris P.   Lee P.   Vellodi A.   Waldek S.   Young E.   Winchester B.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 1, 2005-01 ,pp. : 35-48

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Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

By Opladen Thomas   Abu Seda Bettina   Rassi Anahita   Thöny Beat   Hoffmann Georg   Blau Nenad  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 3, 2011-06 ,pp. : 819-826

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Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

By Opladen Thomas   Abu Seda Bettina   Rassi Anahita   Thöny Beat   Hoffmann Georg   Blau Nenad  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 3, 2011-06 ,pp. : 843-843

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High incidence of autoantibodies in Fabry disease patients

By Martinez P.   Aggio M.   Rozenfeld P.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 365-369

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High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease

By Hauser A.   Gessl A.   Lorenz M.   Voigtländer T.   Födinger M.   Sunder-Plassmann G.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 715-722

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