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Select item 85307151.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O Savage, Helen L Storr

J Clin Endocrinol Metab. 2021 Nov; 106(11): e4716–e4733. Published online 2021 Jun 16. doi: 10.1210/clinem/dgab437

PMCID:: PMC8530715

Article

Select item 80509292.

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi, Alireza Shojazadeh

BMC Pediatr. 2021; 21: 175. Published online 2021 Apr 15. doi: 10.1186/s12887-021-02648-6

PMCID:: PMC8050929

Article PDF–594K

Select item 101794583.

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 94560974.

A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis

Charles J. Arends, Lane H. Wilson, Ana Estrella, Oh Sung Kwon, David A. Weinstein, Young Mok Lee

Int J Mol Sci. 2022 Sep; 23(17): 9944. Published online 2022 Sep 1. doi: 10.3390/ijms23179944

PMCID:: PMC9456097

Article PDF–4.0M

Select item 92951015.

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana

Orphanet J Rare Dis. 2022; 17: 285. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02431-5

PMCID:: PMC9295101

Article PDF–1.3M

Select item 92666046.

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 91427667.

Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease

Sang-oh Han, Dorothy Gheorghiu, Alex Chang, Sweet Hope Mapatano, Songtao Li, Elizabeth Brooks, Dwight Koeberl

Hum Gene Ther. May 2022; 33(9-10): 479–491. Published online 2022 May 16. doi: 10.1089/hum.2021.218

PMCID:: PMC9142766

Article PDF–949K

Select item 81762098.

Neurological Characteristics of Pediatric Glycogen Storage Disease

Julio Henrique Muzetti, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro

Front Endocrinol (Lausanne) 2021; 12: 685272. Published online 2021 May 21. doi: 10.3389/fendo.2021.685272

PMCID:: PMC8176209

Article PDF–3.2M

Select item 80077059.

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi

Sci Rep. 2021; 11: 7040. Published online 2021 Mar 29. doi: 10.1038/s41598-021-86338-4

Correction in:: Sci Rep. 2021; 11: 15542.

PMCID:: PMC8007705

Article PDF–962K

Select item 795358810.

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX

Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 12.

Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 299–305. Published online 2020 Oct 10. doi: 10.1016/j.ymgme.2020.10.004

PMCID:: PMC7953588

Article PDF–427K

Select item 738928811.

3例糖原贮积症Ⅱ型患儿的临床特点及GAA基因突变分析

袁姗, 江杰, 查鹭婷, 杨作成

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct 25; 19(10): 1092–1097. Chinese. doi: 10.7499/j.issn.1008-8830.2017.10.012

PMCID:: PMC7389288

Article PDF–2.0M

Select item 717796712.

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease

Stefan Hintze, Sarah Limmer, Paulina Dabrowska-Schlepp, Birgit Berg, Nicola Krieghoff, Andreas Busch, Andreas Schaaf, Peter Meinke, Benedikt Schoser

Int J Mol Sci. 2020 Apr; 21(7): 2642. Published online 2020 Apr 10. doi: 10.3390/ijms21072642

PMCID:: PMC7177967

Article PDF–4.6M

Select item 607455513.

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

Sulman Basit, Omhani Malibari, Alia Mahmood Al Balwi, Firoz Abdusamad, Feras Abu Ismail

Ann Saudi Med. 2014 Sep-Oct; 34(5): 390–395. doi: 10.5144/0256-4947.2014.390

PMCID:: PMC6074555

Article PDF–2.1M

Select item 591066714.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Patrice Vidal, Serena Pagliarani, Pasqualina Colella, Helena Costa Verdera, Louisa Jauze, Monika Gjorgjieva, Francesco Puzzo, Solenne Marmier, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Sabrina Lucchiari, Laetitia van Wittenberghe, Alban Vignaud, Bernard Gjata, Isabelle Richard, Pascal Laforet, Edoardo Malfatti, Gilles Mithieux, Fabienne Rajas, Giacomo Pietro Comi, Giuseppe Ronzitti, Federico Mingozzi

Mol Ther. 2018 Mar 7; 26(3): 890–901. Published online 2017 Dec 28. doi: 10.1016/j.ymthe.2017.12.019

PMCID:: PMC5910667

Article PDF–2.2M

Select item 463438015.

A novel mouse model that recapitulates adult-onset glycogenosis type 4

H. Orhan Akman, Valentina Emmanuele, Yasemin Gülcan Kurt, Bülent Kurt, Tatiana Sheiko, Salvatore DiMauro, William J. Craigen

Hum Mol Genet. 2015 Dec 1; 24(23): 6801–6810. Published online 2015 Sep 18. doi: 10.1093/hmg/ddv385

PMCID:: PMC4634380

Article PDF–1.2M

Select item 395294716.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Deeksha S. Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Mol Genet Metab. 2014 Mar; 111(3): 309–313. Published online 2013 Dec 19. doi: 10.1016/j.ymgme.2013.12.008

PMCID:: PMC3952947

Article PDF–97K

Select item 386690317.

Non-muscle involvement in late-onset Glycogenosis II

MASSIMILIANO FILOSTO, ALICE TODESCHINI, MARIA SOFIA COTELLI, VALENTINA VIELMI, FABRIZIO RINALDI, SILVIA ROTA, MAURO SCARPELLI, ALESSANDRO PADOVANI

Acta Myol. 2013 Oct; 32(2): 91–94.

PMCID:: PMC3866903

Article PDF–198K

Select item 319689118.

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV

H. Orhan Akman, Tatiana Sheiko, Stacey K.H. Tay, Milton J. Finegold, Salvatore DiMauro, William J. Craigen

Hum Mol Genet. 2011 Nov 15; 20(22): 4430–4439. Published online 2011 Aug 19. doi: 10.1093/hmg/ddr371

PMCID:: PMC3196891

Article PDF–640K

Select item 206360919.

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

John C. Fyfe, Rebeccah L. Kurzhals, Michelle G. Hawkins, Ping Wang, Naoya Yuhki, Urs Giger, Thomas J. Van Winkle, Mark E. Haskins, Donald F. Patterson, Paula S. Henthorn

Mol Genet Metab. Author manuscript; available in PMC 2007 Nov 6.

Published in final edited form as: Mol Genet Metab. 2007 Apr; 90(4): 383–392. Published online 2007 Jan 25. doi: 10.1016/j.ymgme.2006.12.003

Correction in:: volume 104 on page 423

PMCID:: PMC2063609

Article PDF–704K

Select item 191510520.

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

R. C. Nichols, O. Rudolphi, B. Ek, R. Exelbert, P. H. Plotz, N. Raben

Am J Hum Genet. 1996 Jul; 59(1): 59–65.

PMCID:: PMC1915105

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