Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

By Santer R.   Gokçay G.   Demirkol M.   Gal A.   Lukacs Z.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 2, 2005-04 ,pp. : 137-140

Springer Publishing Company

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Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening

By Ficicioglu C.   Hussa C.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 187-190

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Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening

By Napolitano N.   Wiley V.   Pitt J.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 4, 2004-07 ,pp. : 465-471

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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

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Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

By László Á.   Schuler É. Á.   Sallay É.   Endreffy E.   Somogyi Cs.   Várkonyi Á.   Havass Z.   Jansen K. P.   Wolf B.   Wolf B.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 7, 2003-01 ,pp. : 693-698

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