Results 281 to 290 of about 130,693 (343)

Decoding the Glycan Signature: Unraveling N -Glycosylation Alterations in Glycogen Storage Disease Ia and Ib

Xiao R, Zheng J, Loponte HFBR, Ding Y, Gross-Valle C, Derks TG, Horvatovich PL, Heiner-Fokkema MR, Bakker BM, Wolters JC, Lageveen-Kammeijer GSM.   +10 more
europepmc   +1 more source

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European Journal of Pediatrics, 2002
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
Philippe Labrune, Kurt Ullrich, Udo Wendel   +2 more
exaly   +2 more sources

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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Molecular Genetics and Metabolism, 2023
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads
R. Koch, C. Soler-Alfonso, B. Kiely, A. Asai, Ariana L. Smith, Deeksha S. Bali, P. Kang, Andrew P Landstrom, H. Akman, T. Burrow, J. Orthmann-Murphy, D. Goldman, S. Pendyal, A. El-Gharbawy, S. Austin, L. Case, R. Schiffmann, M. Hirano, P. Kishnani   +18 more
semanticscholar   +1 more source

The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI

Science Translational Medicine, 2023
Glycogen storage disease XI, also known as Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder caused by mutations in the SLC2A2 gene that encodes the glucose-facilitated transporter type 2 (GLUT2).
F. Trepiccione, A. Iervolino, M. D'Acierno, Sabrina Siccardi, Vincenzo Costanzo, Donato Sardella, Luigi R. De La Motte, Luciano D’Apolito, Antonio Miele, Alessandra F. Perna, G. Capolongo, M. Zacchia, S. Frische, Rikke Nielsen, Leopoldo Staiano, Irene Sambri, R. De Cegli, R. Unwin, D. Eladari, Giovambattista Capasso   +19 more
semanticscholar   +1 more source

Glycogen storage disease type III: A novel Agl knockout mouse model [PDF]

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2014
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL.
Serena Pagliarani, Michela Ripolone, Andreina Bordoni   +2 more
exaly   +2 more sources

The glycogen storage diseases

Disease-a-Month, 1971
Summary In conclusion, the glycogen storage diseases represent a clinically heterogeneous group of disorders that usually become apparent in early infancy and reflect the consequences of a deficiency of enzymes essential for the normal synthesis and degradation of glycogen.
A, Drash, J, Field
openaire   +2 more sources