Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

Author:

Lu Yung-Hsiu,Huang Po-Hsun,Wang Li-Yun,Hsu Ting-Rong,Li Hsing-Yuan,Lee Pi-Chang,Hsieh Yu-Ping,Hung Sheng-Che,Wang Yu-Chen,Chang Sheng-Kai,Lee Ya-Ting,Ho Ping-Hsun,Ho Hui-Chen,Niu Dau-Ming

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Desnick RJ, Ioannou YA, Eng CM a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York, USA: McGraw-Hill, 2001. p. 3733–74

2. Clarke JT. Narrative review: Fabry disease. Ann Intern Med. 2007;146:425–33.

3. Desnick RJ, Wasserstein MP. Fabry disease: clinical features and recent advances in enzyme replacement therapy. Adv Nephrol Necker Hosp. 2001;31:317–39.

4. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr. 2004;144:S20–6.

5. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet. 2008;372:1427–35.

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