Abstract:
:Starting from an international overview of the current status of screening programs, the present paper focuses on the legal situation in Italy and the great differences among Italian regions. Since the introduction of tandem mass spectrometry (MS/MS) in the 90s the paradigm one spot-one disease changed. Only recently, some regions issued legislative acts to promote expanded newborn screening with MS/MS. This approach raises medico-legal and ethical issues because a fast neonatal diagnosis of an inborn error of metabolism (IEM) could increase chances of an early treatment and reduce disabilities, therefore citizens ought to have the same access to care countrywide. Enacting a mandatory standard for a disease screening panel using MS/MS and a few centers specialized in diagnosis, treatment and follow-up of patients affected by IEM (inborn errors of metabolism) can reduce legal and ethical issues.
journal_name
J Biol Regul Homeost Agentsjournal_title
Journal of biological regulators and homeostatic agentsauthors
Focardi M,Pinchi V,Defraia B,Gualco B,Varvara G,Norelli GAsubject
Has Abstractpub_date
2016-07-01 00:00:00pages
909-914issue
3eissn
0393-974Xissn
1724-6083pii
43journal_volume
30pub_type
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 信件,meta分析
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
doi:
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
doi:
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
pub_type: 杂志文章
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
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journal_title:Journal of biological regulators and homeostatic agents
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