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Select item 57353061.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R. Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Mathieu Cerino, Marc Bartoli, Gisèle Bonne, John Vissing, Pascal Laforet, François M. Petit

Neurol Genet. 2017 Dec; 3(6): e208. Published online 2017 Dec 18. doi: 10.1212/NXG.0000000000000208

PMCID:: PMC5735306

Article PDF–621K

Select item 70460212.

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Kittichate Visuttijai, Carola Hedberg-Oldfors, Christer Thomsen, Emma Glamuzina, Cornelia Kornblum, Giorgio Tasca, Aurelio Hernandez-Lain, Joakim Sandstedt, Göran Dellgren, Peter Roach, Anders Oldfors

J Clin Endocrinol Metab. 2020 Feb; 105(2): 557–566. Published online 2019 Oct 19. doi: 10.1210/clinem/dgz075

PMCID:: PMC7046021

Article

Select item 47245193.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

H. Orhan Akman, Yavuz Aykit, Ozge Ceren Amuk, Edoardo Malfatti, Norma B. Romero, Maria Antonietta Maioli, Rachele Piras, Salvatore DiMauro, Gianni Marrosu

Neuromuscul Disord. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Neuromuscul Disord. 2016 Jan; 26(1): 16–20. Published online 2015 Nov 10. doi: 10.1016/j.nmd.2015.10.012

PMCID:: PMC4724519

Article PDF–1.0M

Select item 32485514.

Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis

Apirat Chaikuad, D. Sean Froese, Georgina Berridge, Frank von Delft, Udo Oppermann, Wyatt W. Yue

Proc Natl Acad Sci U S A. 2011 Dec 27; 108(52): 21028-21033. Published online 2011 Dec 12. doi: 10.1073/pnas.1113921108

PMCID:: PMC3248551

Article PDF–2.5M

Select item 94565215.

Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation

Francesco Callea, Paola Francalanci, Chiara Grimaldi, Francesca Diomedi Camassei, Rita Devito, Fabio Facchetti, Rita Alaggio, Emanuele Bellacchio

Int J Mol Sci. 2022 Sep; 23(17): 9996. Published online 2022 Sep 2. doi: 10.3390/ijms23179996

PMCID:: PMC9456521

Article PDF–3.2M

Select item 72513906.

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt

Mol Genet Metab Rep. 2020 Sep; 24: 100597. Published online 2020 May 24. doi: 10.1016/j.ymgmr.2020.100597

PMCID:: PMC7251390

Article PDF–1.3M

Select item 107180617.

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review

Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu

J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633

PMCID:: PMC10718061

Article PDF–613K

Select item 105269328.

A Comprehensive Update on Late-Onset Pompe Disease

Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

Biomolecules. 2023 Sep; 13(9): 1279. Published online 2023 Aug 22. doi: 10.3390/biom13091279

PMCID:: PMC10526932

Article PDF–848K

Select item 104390289.

SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia

Jennifer Diederich, Pierre Mounkoro, Hernan A. Tirado, Nathalie Chevalier, Emile Van Schaftingen, Maria Veiga-da-Cunha

Cell Mol Life Sci. 2023; 80(9): 259. Published online 2023 Aug 18. doi: 10.1007/s00018-023-04884-8

PMCID:: PMC10439028

Article PDF–2.0M

Select item 1021869410.

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

Federica Conte, Juda-El Sam, Dirk J. Lefeber, Robert Passier

Int J Mol Sci. 2023 May; 24(10): 8632. Published online 2023 May 11. doi: 10.3390/ijms24108632

PMCID:: PMC10218694

Article PDF–2.1M

Select item 1017945811.

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber

Int J Mol Sci. 2023 May; 24(9): 8247. Published online 2023 May 4. doi: 10.3390/ijms24098247

PMCID:: PMC10179458

Article PDF–7.4M

Select item 1008486912.

What’s new and what’s next for gene therapy in Pompe disease?

Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah

Expert Opin Biol Ther. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Expert Opin Biol Ther. 2022 Sep; 22(9): 1117–1135. Published online 2022 Apr 27. doi: 10.1080/14712598.2022.2067476

PMCID:: PMC10084869

Article PDF–689K

Select item 982159913.

Genetics of severe congenital neutropenia as a gateway to personalized therapy

Jean Donadieu, Christine Bellanné-Chantelot

Hematology Am Soc Hematol Educ Program. 2022 Dec 9; 2022(1): 658-665. Published online 2022 Dec 9. doi: 10.1182/hematology.2022000392

PMCID:: PMC9821599

Article PDF–440K

Select item 954079914.

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

Cécile Boulanger, Xavier Stephenne, Jennifer Diederich, Pierre Mounkoro, Nathalie Chevalier, Alina Ferster, Emile Van Schaftingen, Maria Veiga‐da‐Cunha

J Inherit Metab Dis. 2022 Jul; 45(4): 759–768. Published online 2022 May 24. doi: 10.1002/jimd.12509

PMCID:: PMC9540799

Article PDF–2.1M

Select item 951678715.

A glycogen storage disease type 1a patient with type 2 diabetes

Yi Sun, Wenhui Qiang, Runze Wu, Tong Yin, Jie Yuan, Jin Yuan, Yunjuan Gu

BMC Med Genomics. 2022; 15: 205. Published online 2022 Sep 27. doi: 10.1186/s12920-022-01344-3

PMCID:: PMC9516787

Article PDF–1.5M

Select item 948940816.

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

Genet Res (Camb) 2022; 2022: 5870092. Published online 2022 Sep 13. doi: 10.1155/2022/5870092

PMCID:: PMC9489408

Article PDF–855K

Select item 929409417.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz, Sahba Kasiri, Dikran R. Guisso, Jun Wu, Matthew Dear, Brandy Verhalen, Berge A. Minassian

Neurotherapeutics. 2022 Apr; 19(3): 982–993. Published online 2022 Mar 28. doi: 10.1007/s13311-022-01218-7

PMCID:: PMC9294094

Article PDF–15M

Select item 926660418.

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza

Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957

PMCID:: PMC9266604

Article PDF–2.6M

Select item 891538119.

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

Udara Dilrukshi Senarathne, Eresha Jasinge, Sarojini Viknarajah Mohan, Samantha Waidyanatha

BMJ Case Rep. 2022; 15(3): e247312. Published online 2022 Mar 9. doi: 10.1136/bcr-2021-247312

PMCID:: PMC8915381

Article PDF–1.5M

Select item 876481220.

Features of chinese patients with sitosterolemia

Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li

Lipids Health Dis. 2022; 21: 11. Published online 2022 Jan 18. doi: 10.1186/s12944-021-01619-1

PMCID:: PMC8764812

Article PDF–817K

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