Patient-reported outcomes and quality of life in PMM2-CDG-Reference-Cited by-同舟云学术

Patient-reported outcomes and quality of life in PMM2-CDG

Published:2022-06 Issue:2 Volume:136 Page:145-151
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ligezka Anna N.,Mohamed Anab,Pascoal Carlota,Ferreira Vanessa Dos Reis,Boyer Suzanne,Lam Christina,Edmondson Andrew,Krzysciak Wirginia,Golebiowski Raphael,Perez-Ortiz Judit,Morava Eva

Publisher

Elsevier BV

Subject

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

Reference32 articles.

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2. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study;Witters;Orphanet J Rare Dis,2021

3. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?;Witters;Genet. Med.,2019

4. AZATAX: acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG);Martínez-Monseny;Ann. Neurol.,2019

5. D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial;Witters;Orphanet J Rare Dis,2021

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4. HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum;Journal of Clinical Immunology;2024-06-19

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