Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
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Hoboken, USA: John Wiley & Sons, Inc
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English
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Hoboken, USA: John Wiley & Sons, Inc
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ABSTRACT
Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms rangin...
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Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
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TN_cdi_doaj_primary_oai_doaj_org_article_a6a48cbbdc2a48508c9a6aaeae7a9000
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a6a48cbbdc2a48508c9a6aaeae7a9000
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.70011
