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- 2024
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Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
(
- Contribution to journal › Scientific review
- 2023
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Mark
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
(
- Contribution to journal › Article
- 2020
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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