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- 2018
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
- 2015
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Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
- 2006
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Mark
The congenital disorders of glycosylation: a multifaceted group of syndromes.
(
- Contribution to journal › Article
- 2000
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Mark
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
(
- Contribution to journal › Article