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Article

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

European journal of pediatrics - 1 Aug 2005

Melis Daniela, Fulceri Rossella, Parenti Giancarlo, Marcolongo Paola, Gatti Rosanna, Parini Rossella, Riva Enrica, Della Casa Roberto, Zammarchi Enrico, Andria Generoso, Benedetti Angelo

Abstract excerpt

UNLABELLED: We studied the genotype/phenotype correlation in a cohort of glycogen storage disease type (GSD) 1b patients. A total of 25 GSD1b patients, 13 females and 12 males, age range: 4.3-28.4 years, mean:14.6+/-6.8 years; median: 15 years, representing the entire case load of Italian GSD1b patients, were enrolled in the study. Molecular analysis of the glucose 6-phosphate translocase (G6PT1) gene was...

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PMID: 15906092
DOI: 10.1007/s00431-005-1657-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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