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Select item 104536591.

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Handan Bezirganoglu, Kubra Adanur Saglam

Children (Basel) 2023 Aug; 10(8): 1375. Published online 2023 Aug 11. doi: 10.3390/children10081375

PMCID:: PMC10453659

Article PDF–1.6M

Select item 99531262.

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz

Biomedicines. 2023 Feb; 11(2): 363. Published online 2023 Jan 26. doi: 10.3390/biomedicines11020363

PMCID:: PMC9953126

Article PDF–11M

Select item 96794043.

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Qiuyu Liutang, Yajun Wang, Guoda Ma, Riling Chen

Front Genet. 2022; 13: 1033944. Published online 2022 Nov 8. doi: 10.3389/fgene.2022.1033944

PMCID:: PMC9679404

Article PDF–1.7M

Select item 96128014.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian

Brain. 2022 Jul; 145(7): 2361–2377. Published online 2022 Jan 27. doi: 10.1093/brain/awac017

PMCID:: PMC9612801

Article PDF–2.9M

Select item 95135185.

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani

Front Genet. 2022; 13: 992406. Published online 2022 Sep 13. doi: 10.3389/fgene.2022.992406

PMCID:: PMC9513518

Article PDF–1.6M

Select item 82468216.

The potential of dietary treatment in patients with glycogen storage disease type IV

Terry G. J. Derks, Fabian Peeks, Foekje de Boer, Marieke Fokkert‐Wilts, Hubert P. J. van der Doef, Marius C. van den Heuvel, Edyta Szymańska, Dariusz Rokicki, Patrick T. Ryan, David A. Weinstein

J Inherit Metab Dis. 2021 May; 44(3): 693–704. Published online 2020 Dec 21. doi: 10.1002/jimd.12339

PMCID:: PMC8246821

Article PDF–3.2M

Select item 79334447.

Liver Transplantation for Glycogen Storage Disease Type IV

Min Liu, Li-Ying Sun

Front Pediatr. 2021; 9: 633822. Published online 2021 Feb 19. doi: 10.3389/fped.2021.633822

PMCID:: PMC7933444

Article PDF–168K

Select item 73198288.

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging

Shawn Lyo, Jeremy Miles, Jay Meisner, Mark Guelfguat

Eur Heart J Case Rep. 2020 Jun; 4(3): 1–6. Published online 2020 May 3. doi: 10.1093/ehjcr/ytaa078

PMCID:: PMC7319828

Article PDF–777K

Select item 72356389.

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama

Mol Genet Metab Rep. 2020 Sep; 24: 100601. Published online 2020 May 18. doi: 10.1016/j.ymgmr.2020.100601

PMCID:: PMC7235638

Article PDF–1.1M

Select item 674789610.

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

Mesaki Kenneth Ndugga-Kabuye, Joseph Maleszewski, Sirisak Chanprasert, Kelly D Smith

BMJ Case Rep. 2019; 12(9): e230068. Published online 2019 Sep 16. doi: 10.1136/bcr-2019-230068

PMCID:: PMC6747896

Article PDF–768K

Select item 633667411.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Imre F. Schene, Christoph G. Korenke, Hidde H. Huidekoper, Ludo van der Pol, Dennis Dooijes, Johannes M. P. J. Breur, Saskia Biskup, Sabine A. Fuchs, Gepke Visser

JIMD Rep. 2019; 45: 99–104. Published online 2018 Dec 20. doi: 10.1007/8904_2018_148

PMCID:: PMC6336674

Article PDF–334K

Select item 633654512.

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV

Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar

JIMD Rep. 2019; 45: 51–55. Published online 2018 Oct 12. doi: 10.1007/8904_2018_142

PMCID:: PMC6336545

Article PDF–413K

Select item 618248313.

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

So Yoon Choi, Ben Kang, Jae Young Choe, Yoon Lee, Hyo Jeong Jang, Hyung-Doo Park, Suk-Koo Lee, Yon Ho Choe

Pediatr Gastroenterol Hepatol Nutr. 2018 Oct; 21(4): 365–368. Published online 2018 Oct 10. doi: 10.5223/pghn.2018.21.4.365

PMCID:: PMC6182483

Article PDF–11M

Select item 614061914.

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi

Mol Genet Metab Rep. 2018 Dec; 17: 31–37. Published online 2018 Sep 13. doi: 10.1016/j.ymgmr.2018.09.001

PMCID:: PMC6140619

Article PDF–1.1M

Select item 533815815.

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient

Kristin Lee, Thomas Ernst, Gro Løhaugen, Xin Zhang, Linda Chang

Ann Clin Transl Neurol. 2017 Mar; 4(3): 217–222. Published online 2017 Feb 23. doi: 10.1002/acn3.394

PMCID:: PMC5338158

Article PDF–414K

Select item 511044516.

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV

Haiqing Yi, Quan Zhang, Chunyu Yang, Priya S. Kishnani, Baodong Sun

JIMD Rep. 2016; 30: 89–94. Published online 2016 Jun 26. doi: 10.1007/8904_2015_522

PMCID:: PMC5110445

Article PDF–321K

Select item 505303117.

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S Kishnani, Baodong Sun

Mol Genet Metab Rep. 2016 Dec; 9: 31–33. Published online 2016 Oct 4. doi: 10.1016/j.ymgmr.2016.09.008

PMCID:: PMC5053031

Article PDF–319K

Select item 458159918.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

D. Sean Froese, Amit Michaeli, Thomas J. McCorvie, Tobias Krojer, Meitav Sasi, Esther Melaev, Amiram Goldblum, Maria Zatsepin, Alexander Lossos, Rafael Álvarez, Pablo V. Escribá, Berge A. Minassian, Frank von Delft, Or Kakhlon, Wyatt W. Yue

Hum Mol Genet. 2015 Oct 15; 24(20): 5667–5676. Published online 2015 Jul 21. doi: 10.1093/hmg/ddv280

PMCID:: PMC4581599

Article PDF–1.1M

Select item 445113719.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, Aurélie Cobat, Nadine Tarantino, Melissa Hazen, Hart G.W. Lidov, Gregory Hopkins, Likun Du, Aziz Belkadi, Maya Chrabieh, Yuval Itan, Capucine Picard, Jean-Christophe Fournet, Hermann Eibel, Erdyni Tsitsikov, Sung-Yun Pai, Laurent Abel, Waleed Al-Herz, Jean-Laurent Casanova, Alain Israel, Luigi D. Notarangelo

J Exp Med. 2015 Jun 1; 212(6): 939–951. doi: 10.1084/jem.20141130