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Article

Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results.

Molecular genetics and metabolism - 1 Jun 2026

Schultz Matthew J, Liedtke Kristen L, Turgeon Coleman T, Matern Dietrich, Hall Patricia L

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a large, rapidly expanding group of inherited disorders with variable phenotypes. More than 200 CDGs have been reported, many in only a small number of patients. Untargeted next-generation sequencing methods have led to the discovery of most CDGs, shortening the time to diagnosis in many cases. However, novel missense variants are frequently identified, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41905312
DOI: 10.1016/j.ymgme.2026.109910

Genes

ALG13
MAN1B1
PMM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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