Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects | Zendy

Willy Morelle | Zendy; Sven Potelle | Zendy; Peter Witters | Zendy; Sunnie Wong | Zendy; Leslie K. Climer | Zendy; Vladimir Lupashin | Zendy; Gert Matthijs | Zendy; Therese Gadomski | Zendy; Jaak Jaeken | Zendy; David Cassiman | Zendy; Éva Morava | Zendy; François Foulquier | Zendy

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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

Author(s) -

Willy Morelle,

Sven Potelle,

Peter Witters,

Sunnie Wong,

Leslie K. Climer,

Vladimir Lupashin,

Gert Matthijs,

Therese Gadomski,

Jaak Jaeken,

David Cassiman,

Éva Morava,

François Foulquier

Publication year - 2017

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-3443

Subject(s) - glycosylation , transferrin , glycan , galactose , glycoprotein , chemistry , medicine , biochemistry , biology , endocrinology

TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases in which the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. There are >100 CDGs, but only specific types are treatable.

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