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GBE1 AR unreviewed

Andersen disease (GSD IV)

Glycogenesis (Glycogen Synthesis) Glycogen branching enzyme

Enzyme or protein defect

Glycogen branching enzyme

Accumulates or becomes deficient

Poorly branched polyglucosan

Key features

Cirrhosis, failure to thrive, early death

Management

Liver transplant

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · from cache · sorted by publication date

  1. 1
    Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.

    Patel U, Gunes E, Chawla A, Ashman K, Taub A, Arakelyan T, Madani A, Patel K, Bui Q, Adler E. · 2026-07-10

    unreviewed
  2. 2
    Pathophysiology and Management of Fatigue in Neuromuscular Diseases.

    Torri F, Lopriore P, Montano V, Siciliano G, Mancuso M, Ricci G. · 2023-03-05

    cited 14× open access unreviewed
  3. 3
    Two Diseases-One Preclinical Treatment Targeting Glycogen Synthesis.

    Gentry MS, Markussen KH, Donohue KJ. · 2022-04-22

    cited 4× unreviewed
  4. 4
    251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

    Laforêt P, Oldfors A, Malfatti E, Vissing J, ENMC 251st workshop study group. · 2021-01-23

    cited 6× unreviewed
  5. 5
    Biomarkers in Glycogen Storage Diseases: An Update.

    Molares-Vila A, Corbalán-Rivas A, Carnero-Gregorio M, González-Cespón JL, Rodríguez-Cerdeira C. · 2021-04-22

    cited 25× open access unreviewed
  6. 6
    Glycogen metabolism in humans.

    Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E. · 2016-02-27

    cited 339× open access unreviewed
  7. 7
    Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.

    Valles-Ortega J, Duran J, Garcia-Rocha M, Bosch C, Saez I, Pujadas L, Serafin A, Cañas X, Soriano E, Delgado-… · 2011-08-29

    cited 104× open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.