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- 2024
-
Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
(
- Contribution to journal › Scientific review
- 2023
-
Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
- 2020
-
Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article
- 2018
-
Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
-
Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2016
-
Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
(
- Contribution to journal › Article
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
- 2015
-
Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
- 2012
-
Mark
Neurology of inherited glycosylation disorders
(
- Contribution to journal › Scientific review
- 2009
-
Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article