Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

By Gelb Michael   Turecek Frantisek   Scott C.   Chamoles Nestor  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 2-3, 2006-04 ,pp. : 397-404

Springer Publishing Company

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A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

By Lee J.   Yoon H.   Paik K.   Hwang S.   Shim J.   Chang Y.   Park W.   Strauss A.   Jin D.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 403-406

Springer Publishing Company

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Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples

By Fingerhut Ralph   Jesus Silva Arevalo Gabriel   Baumgartner Matthias   Häberle Johannes   Rohrbach Marianne   Figueroa Andrés   Fresse Elena   Polanco Olga   Torresani Toni  

Journal of Inherited Metabolic Disease, Vol. 33, Iss. 2, 2010-10 ,pp. : 235-239

Springer Publishing Company

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The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

By Sturiale Luisa   Barone Rita   Garozzo Domenico  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 4, 2011-08 ,pp. : 891-899

Springer Publishing Company

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The ratio of α-galactosidase to β-glucuronidase activities in dried blood for the identification of female Fabry disease patients

By Lukacs Z.   Keil A.   Kohlschütter A.   Beck M.   Mengel E.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 803-805

Springer Publishing Company

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