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

Springer Publishing Company

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Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency

By Dhondt Jean-Louis  

Journal of Inherited Metabolic Disease, Vol. 33, Iss. 2, 2010-10 ,pp. : 219-223

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Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

By Auray-Blais C.   Cyr D.   Mills K.   Giguère R.   Drouin R.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 1, 2007-02 ,pp. : 106-106

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High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

By Sarafoglou K.   Bentler K.   Gaviglio A.   Redlinger-Grosse K.   Anderson C.   McCann M.   Bloom B.   Babovic-Vuksanovic D.   Gavrilov D.   Berry S.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 169-173

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Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

By Zurflüh M.   Fiori L.   Fiege B.   Ozen I.   Demirkol M.   Gärtner K.   Thöny B.   Giovannini M.   Blau N.  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 6, 2006-12 ,pp. : 725-731

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