Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0174-3/fulltext.html
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3. Bradley LA, Haddow HRM, Palomaki GE (2017) Treatment of mucopolysaccharidosis type II (hunter syndrome): results from a systematic evidence review. Genet Med. https://doi.org/10.1038/gim.2017.30
4. Bunge S, Clements PR, Byers S et al (1998) Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim Biophys Acta 1407:249–256
5. Ferry Q, Steinberg J, Webber C et al (2014) Diagnostically relevant facial gestalt information from ordinary photos. Elife 3:e02020
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