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Article

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

The Journal of pediatrics - 1 Aug 2016

Wong Sunnie Yan-Wai, Beamer Lesa J, Gadomski Therese, Honzik Tomas, Mohamed Miski, Wortmann Saskia B, Brocke Holmefjord Katja S, Mork Marit, Bowling Francis, Sykut-Cegielska Jolanta, Koch Dieter, Ackermann Amanda, Stanley Charles A, Rymen Daisy, Zeharia Avraham, Al-Sayed Moeen, Marquardt Thomas, Jaeken Jaak, Lefeber Dirk, Conrad Donald F, Kozicz Tamas, Morava Eva

Abstract excerpt

OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the...

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Source

Identifiers

PMID: 27206562
DOI: 10.1016/j.jpeds.2016.04.021

Genes

PGM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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