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Target diseases for neonatal screening in Germany—challenges for treatment and long-term care
Author(s) -
Ute Spiekerkoetter,
Heiko Krude
Publication year - 2022
Publication title -
deutsches ärzteblatt international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.436
H-Index - 60
ISSN - 1866-0452
DOI - 10.3238/arztebl.m2022.0075
Subject(s) - medicine , newborn screening , pediatrics , intensive care medicine , disease , hyperphenylalaninemia , medline , pathology , law , chemistry , biochemistry , political science , amino acid , phenylalanine
Neonatal screening in Germany currently comprises 19 congenital diseases, 13 of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of these target diseases. Early diagnosis and treatment enable the affected children to undergo better development and even, in many cases, to have a normal life.

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