Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy-Reference-Cited by-同舟云学术

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

Published:2017-11-15 Issue:2 Volume:41 Page:209-219
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Burlina Alberto B.,Polo Giulia,Salviati Leonardo,Duro Giovanni,Zizzo Carmela,Dardis Andrea,Bembi Bruno,Cazzorla Chiara,Rubert Laura,Zordan Roberta,Desnick Robert J.,Burlina Alessandro P.

Funder

meta A.S.M.M.E. – Associazione Studio Malattie Metaboliche Ereditarie – ONLUS.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0098-3/fulltext.html

Reference47 articles.

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3. Chien YH, Lee NC, Thurberg BL et al (2009) Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 124:e1116–1125

4. Clarke LA, Atherton AM, Burton BK et al (2017) Mucopolysaccharidosis type I newborn screening: best practices for diagnosis and management. J Pediatr 182:363–370

5. Dionisi-Vici C, Rizzo C, Burlina AB et al (2002) Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 140:321–327

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