Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?-Reference-Cited by-同舟云学术

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Published:2021-08 Issue:4 Volume:133 Page:397-399
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Čechová Anna,Honzík Tomáš,Edmondson Andrew C.,Ficicioglu Can,Serrano Mercedes,Barone Rita,De Lonlay Pascale,Schiff Manuel,Witters Peter,Lam Christina,Patterson Marc,Janssen Mirian C.H.,Correia Joana,Quelhas Dulce,Sykut-Cegielska Jolanta,Plotkin Horacio,Morava Eva,Sarafoglou Kyriakie

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference14 articles.

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2. Congenital disorders of glycosylation: still “hot” in 2020;Ondruskova;Biochim. Biophys. Acta Gen. Subj.,1865

3. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system;Miller;Rev. Endocr. Metab. Disord.,2003

4. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up;Altassan;J. Inherit. Metab. Dis.,2019

5. Central adrenal insufficiency: open issues regarding diagnosis and glucocorticoid treatment;Ceccato;Clin. Chem. Lab. Med.,2019

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2. Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation;Molecular Genetics and Metabolism;2023-04

3. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

4. Nutrition interventions in congenital disorders of glycosylation;Trends in Molecular Medicine;2022-06