PGM1

Publications

Altassan R et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148–163. PMID: 32681750.

Fernlund E et al. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood. Forensic Sci Int Genet. 2019;43:102111. PMID: 31563034.

Radenkovic S et al. Central nervous involvement is common in PGM1-CDG. Mol Genet Metab. 2018;125(3):200–204. PMID: 30262252.

Radenkovic S et al. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet. 2019;104(5):835–846. PMID: 30982613.

Tegtmeyer LC et al. Multiple Phenotypes in Phosphoglucomutase 1 Deficiency. N Engl J Med. 2014;370(6):533–542. PMID: 24499211.

Tian WT et al. Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. Neuromuscul Disord. 2019;29(4):282–289. PMID: 30737079.

Voermans NC et al. PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose. Neuromuscul Disord. 2017;27(4):370–376. PMID: 28190645.

Wong SYW et al. Oral D-galactose supplementation in PGM1-CDG. Genet Med. 2017;19(11):1226–1235. PMID: 28617415.

Zeevaert R et al. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. Acta Clin Belg. 2016;71(6):435–437. PMID: 27351072.