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Select item 83916191.

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Sarah Catharina Grünert, Luciana Hannibal, Ute Spiekerkoetter

Genes (Basel) 2021 Aug; 12(8): 1205. Published online 2021 Aug 3. doi: 10.3390/genes12081205

PMCID:: PMC8391619

Abstract Article PDF–546K

Select item 68240772.

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

Lane H. Wilson, Jun‐Ho Cho, Ana Estrella, Joan A. Smyth, Rong Wu, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein, Young Mok Lee

Hepatol Commun. 2019 Nov; 3(11): 1544–1555. Published online 2019 Sep 24. doi: 10.1002/hep4.1426

PMCID:: PMC6824077

Abstract Article PDF–2.4M

Select item 103545823.

Glycogen storage diseases: An update

Ersin Gümüş, Hasan Özen

World J Gastroenterol. 2023 Jul 7; 29(25): 3932–3963. Published online 2023 Jul 7. doi: 10.3748/wjg.v29.i25.3932

PMCID:: PMC10354582

Abstract Article PDF–820K

Select item 80783724.

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review

Qian Zhan, Zili Lv, Qing Tang, Li Huang, Xiuqi Chen, Meixiong Yang, Liancheng Lan, Qingwen Shan

Medicine (Baltimore) 2021 Apr 23; 100(16): e25520. Published online 2021 Apr 23. doi: 10.1097/MD.0000000000025520

PMCID:: PMC8078372

Abstract Article PDF–947K

Select item 77661105.

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Aitana Almodóvar-Payá, Mónica Villarreal-Salazar, Noemí de Luna, Gisela Nogales-Gadea, Alberto Real-Martínez, Antoni L. Andreu, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, John Vissing, Thomas Krag, Tomàs Pinós

Int J Mol Sci. 2020 Dec; 21(24): 9621. Published online 2020 Dec 17. doi: 10.3390/ijms21249621

PMCID:: PMC7766110

Abstract Article PDF–682K

Select item 78315476.

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi

Front Genet. 2020; 11: 601566. Published online 2021 Jan 11. doi: 10.3389/fgene.2020.601566

PMCID:: PMC7831547

Abstract Article PDF–1.3M

Select item 92081597.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana

Orphanet J Rare Dis. 2022; 17: 241. Published online 2022 Jun 20. doi: 10.1186/s13023-022-02387-6

PMCID:: PMC9208159

Abstract Article PDF–1.0M

Select item 16840938.

The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.

C B Newgard, R J Fletterick, L A Anderson, R V Lebo

Am J Hum Genet. 1987 Apr; 40(4): 351–364.

PMCID:: PMC1684093

Summary Page Browse PDF–1.7M

Select item 13770309.

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

B Burwinkel, H D Bakker, E Herschkovitz, S W Moses, Y S Shin, M W Kilimann

Am J Hum Genet. 1998 Apr; 62(4): 785–791. doi: 10.1086/301790

PMCID:: PMC1377030

Summary PDF–654K

Select item 744234210.

Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies

Katalin M Ross, Iris A Ferrecchia, Kathryn R Dahlberg, Monika Dambska, Patrick T Ryan, David A Weinstein

Adv Nutr. 2020 Mar; 11(2): 439–446. Published online 2019 Sep 5. doi: 10.1093/advances/nmz092

PMCID:: PMC7442342

Abstract Article PDF–207K

Select item 714049411.

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu, Wenjuan Qiu

BMC Med Genet. 2020; 21: 74. Published online 2020 Apr 8. doi: 10.1186/s12881-020-01010-4

PMCID:: PMC7140494

Abstract Article PDF–1.0M

Select item 605012712.

Biochemical and Clinical Aspects of Glycogen Storage Diseases

Sara S. Ellingwood, Alan Cheng

J Endocrinol. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: J Endocrinol. 2018 Sep; 238(3): R131–R141. Published online 2018 Jun 6. doi: 10.1530/JOE-18-0120

PMCID:: PMC6050127

Abstract Article PDF–593K

Select item 1023391713.

Clinical and genetic spectrum of GSD type 6 in Korea

Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko

Orphanet J Rare Dis. 2023; 18: 132. Published online 2023 Jun 1. doi: 10.1186/s13023-023-02750-1

PMCID:: PMC10233917

Abstract Article PDF–1.7M

Select item 116537114.

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.

B Lederer, F Van Hoof, G Van den Berghe, H Hers

Biochem J. 1975 Apr; 147(1): 23–35. doi: 10.1042/bj1470023

PMCID:: PMC1165371

Summary Page Browse PDF–1.9M

Select item 799854515.

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter

Diagnostics (Basel) 2021 Mar; 11(3): 500. Published online 2021 Mar 12. doi: 10.3390/diagnostics11030500