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Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1.
Genet Med. 2011.
PMID: 21502868
Free article.
Diagnostic guidelines for newborns who screen positive in newborn screening.
Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group.
Kronn D, et al.
Genet Med. 2010 Dec;12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b.
Genet Med. 2010.
PMID: 21150371
Free article.
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