No abstract available
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Congenital Disorders of Glycosylation / diagnosis
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Congenital Disorders of Glycosylation / genetics*
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Genetic Testing*
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Humans
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Mannose-6-Phosphate Isomerase / deficiency*
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Mannose-6-Phosphate Isomerase / genetics
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Mutation
Substances
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Mannose-6-Phosphate Isomerase
Supplementary concepts
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Congenital disorder of glycosylation type 1B