Works about GLYCOGEN storage disease

Results: 757

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574381

By:

Sciacco, Monica;
Lucchiari, Sabrina;
Bertolasi, Letizia;
Comi, Giacomo Pietro;
Corti, Stefania;
Ronchi, Dario

Publication type:

Article

A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.

Published in:

2025

By:

Harh, Seba;
Shahoud, Shaza;
Daher, Shady;
Alasmar, Diana

Publication type:

Case Study

Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61077-6

By:

Guan, Huiyi;
Chen, Huan;
Geng, He;
Ma, Ruifang;
Liu, Zhongmin;
Wang, Yong;
Chen, Yifang;
Yan, Kaige

Publication type:

Article

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

Published in:

Disability & Rehabilitation, 2025, v. 47, n. 14, p. 3649, doi. 10.1080/09638288.2024.2424439

By:

van Haaren - Pater, Ronne;
Karazi, Walaa;
Maas, Daphne;
Bloemen, Bart;
Voet, Nicoline;
van Oorsouw, Roel;
Quinlivan, Ros;
Bhai, Salman;
Wakelin, Andrew;
Reason, Stacey;
Groothuis, Jan T.;
Cup, Edith;
Voermans, Nicol C.

Publication type:

Article

Patients with craniofacial and noncraniofacial abnormalities: Do they deserve a special attention?

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 3, p. 207, doi. 10.1111/pan.13829

By:

Nasr, Viviane G.

Publication type:

Article

Mc Ardle's disease (glycogen storage disease type V) and anesthesia - a case report and review of the literature.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 817, doi. 10.1111/pan.12164

By:

Bollig, Georg

Publication type:

Article

Enfermedad de Pompe forma infantil (glucogenosis tipo II). Informe de dos casos en niños mexicanos descubiertos por autopsia.

Published in:

Acta Pediatrica de Mexico, 2009, v. 30, n. 3, p. 142

By:

Ridaura-Sanz, Cecilia;
de León-Bojorge, Beatriz;
Belmont-Martínez, Leticia;
Vela-Amieva, Marcela

Publication type:

Article

Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).

Published in:

Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 10, p. 1263, doi. 10.1111/jog.13055

By:

Rohman, Philippa J.;
Scott, Elaine;
Richfield, Linda;
Ramaswami, Uma;
Hughes, Derralynn A.

Publication type:

Article

Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).

Published in:

Clinical Rheumatology, 2019, v. 38, n. 10, p. 2941, doi. 10.1007/s10067-019-04572-8

By:

Üsküdar Cansu, Döndü;
Erdoğan, Bahattin;
Korkmaz, Cengiz

Publication type:

Article

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

Published in:

Clinical Rheumatology, 2016, v. 35, n. 11, p. 2851, doi. 10.1007/s10067-016-3290-1

By:

Zhang, Bingqing;
Zeng, Xuejun

Publication type:

Article

Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).

Published in:

2019

By:

Rehmann, R.;
Schlaffke, L.;
Froeling, M.;
Kley, R. A.;
Kühnle, E.;
De Marées, M.;
Forsting, J.;
Rohm, M.;
Tegenthoff, M.;
Schmidt-Wilcke, T.;
Vorgerd, M.

Publication type:

journal article

Novel method for detection of glycogen in cells.

Published in:

Glycobiology, 2017, v. 27, n. 5, p. 416, doi. 10.1093/glycob/cwx005

By:

Skurat, Alexander V.;
Segvich, Dyann M.;
DePaoli-Roach, Anna A.;
Roach, Peter J.

Publication type:

Article

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

Published in:

Glycobiology, 2011, v. 21, n. 7, p. 914, doi. 10.1093/glycob/cwr023

By:

Hayee, Bu'Hussain;
Antonopoulos, Aristotelis;
Murphy, Emma J;
Rahman, Farooq Z;
Sewell, Gavin;
Smith, Bradley N;
McCartney, Sara;
Furman, Mark;
Hall, Georgina;
Bloom, Stuart L;
Haslam, Stuart M;
Morris, Howard R;
Boztug, Kaan;
Klein, Christoph;
Winchester, Bryan;
Pick, Edgar;
Linch, David C;
Gale, Rosemary E;
Smith, Andrew M;
Dell, Anne

Publication type:

Article

Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2025, v. 80, n. 1, p. 151, doi. 10.1002/jpn3.12391

By:

Gupta, Ambika;
Agarwala, Anuja;
Kalaivani, Mani;
Malik, Rohan;
Sharma, Rajni;
Kabra, Madhulika;
Gupta, Neerja

Publication type:

Article

Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07070-z

By:

Kiyuna, Ligia Akemi;
Krishnamurthy, Kishore Alagere;
Homan, Esther B.;
Langelaar-Makkinje, Miriam;
Gerding, Albert;
Bos, Trijnie;
Oosterhuis, Dorenda;
Overduin, Ruben J.;
Schreuder, Andrea B.;
de Meijer, Vincent E.;
Olinga, Peter;
Derks, Terry G. J.;
van Eunen, Karen;
Bakker, Barbara M.;
Oosterveer, Maaike H.

Publication type:

Article

Prevalence and clinical profile of glycogen storage diseases in children from Western India.

Published in:

Clinical & Experimental Hepatology, 2020, v. 6, n. 1, p. 9, doi. 10.5114/ceh.2020.93050

By:

Shah, Ira;
Tolani, Drishti;
Shetty, Naman S.;
Karkare, Vishrutha

Publication type:

Article

The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6452, doi. 10.3390/jcm13216452

By:

Önal, Hülya Gözde;
Nalçacıoğlu, Hülya;
Özer, Işıl;
Karalı, Demet Tekcan

Publication type:

Article

The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3339, doi. 10.3390/jcm10153339

By:

Fang, Tingting;
Wang, Jie;
Kang, Yu;
Yang, Fuyao;
Xu, Yuanwei;
Wan, Ke;
Sun, Jiayu;
Han, Yuchi;
Chen, Yucheng

Publication type:

Article

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 9, p. 1954, doi. 10.3390/jcm10091954

By:

Vio, Riccardo;
Angelini, Annalisa;
Basso, Cristina;
Cipriani, Alberto;
Zorzi, Alessandro;
Melacini, Paola;
Thiene, Gaetano;
Rampazzo, Alessandra;
Corrado, Domenico;
Calore, Chiara;
Calore, Martina

Publication type:

Article

Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2326, doi. 10.3390/jcm9082326

By:

Hinkel, Julia;
Schmitt, Johannes;
Wurm, Michael;
Rosenbaum-Fabian, Stefanie;
Schwab, Karl Otfried;
Jacobsen, Donald W.;
Spiekerkoetter, Ute;
Fedosov, Sergey N.;
Hannibal, Luciana;
Grünert, Sarah C.

Publication type:

Article

Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.

Published in:

2023

By:

Takahashi, Tamayo;
Oue, Kana;
Imado, Eiji;
Doi, Mitsuru;
Shimizu, Yoshitaka;
Yoshida, Mitsuhiro

Publication type:

Case Study

An autosomal recessive mutation in PYGM causes myophosphorylase deficiency in composite cattle.

Published in:

Journal of Animal Science, 2024, v. 102, p. 39, doi. 10.1093/jas/skae234.044

By:

Batt, Mackenzie C.;
Venzor, Leila G.;
Gardner, Keri;
Reith, Rachel R.;
Roberts, Kelsey A.;
Herrera, Nicolas J.;
Fuller, Anna M.;
Sullivan, Gary A.;
Mulliniks, Travis;
Spangler, Matthew L.;
Valberg, Stephanie J.;
Steffen, David J.;
Petersen, Jessica L.

Publication type:

Article

Integrative proteomics and metabolomics profiling to understand the biochemical basis of beef muscle darkening at a slightly elevated pH.

Published in:

Journal of Animal Science, 2023, v. 101, n. 1, p. 1, doi. 10.1093/jas/skac376

By:

Kiyimba, Frank;
Cassens, Drew;
Hartson, Steven D;
Rogers, Janet;
Habiger, Joshua;
Mafi, Gretchen G;
Ramanathan, Ranjith

Publication type:

Article

A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period.

Published in:

Journal of Pediatric Research, 2019, v. 6, n. 2, p. 155, doi. 10.4274/jpr.galenos.2018.58561

By:

Gözmen, Şükran Keskin;
Çelik, Kıymet;
Çalkavur, Şebnem;
Serdaroğlu, Erkin

Publication type:

Article

In silico analysis of point mutation (c.687dupC; p. Met230Hisfs*6) in PGAM2 gene that causes Glycogen Storage Disease (GSD) Type X.

Published in:

Kuwait Journal of Science, 2025, v. 52, n. 1, p. 1, doi. 10.1016/j.kjs.2024.100344

By:

Abid, Ayesha;
Nasir, Eman;
Awan, Hassaan Mehboob

Publication type:

Article

5th RARE DISEASE SOUTH EASTERN EUROPE (SEE) MEETING, SKOPJE, MACEDONIA (NOVEMBER 15th, 2016).

Published in:

2017

By:

Gucev, Zoran;
Tasic, Velibor;
Polenakovic, Momir

Publication type:

Proceeding

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

Published in:

Genetics Research, 2022, p. 1, doi. 10.1155/2022/5870092

By:

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

Publication type:

Article

Genetic and Glycogen Storage Diseases.

Published in:

Zahedan Journal of Research in Medical Sciences, 2013, v. 15, n. 10, p. 7

By:

Gholami, Sara;
Sadr-Nabavi, Ariane

Publication type:

Article

A deep learning approach for blood glucose monitoring and hypoglycemia prediction in glycogen storage disease.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-97391-8

By:

Ryu, Ji Seung;
Ru, Jang Hoon;
Kang, Yunkoo;
Yang, Sejung

Publication type:

Article

The need for liver transplant in a sample of Iraqi children with chronic liver disease.

Published in:

Revista Latinoamericana de Hipertension, 2021, v. 16, n. 4, p. 304, doi. 10.5281/zenodo.5812273

By:

Thejeal, Rabab Farhan;
Bahlol, Ali Raad;
Noori, Raad Jasim

Publication type:

Article

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).

Published in:

Animal Genetics, 2021, v. 52, n. 6, p. 900, doi. 10.1111/age.13146

By:

Christen, Matthias;
Reineking, Wencke;
Beineke, Andreas;
Jagannathan, Vidhya;
Baumgärtner, Wolfgang;
Leeb, Tosso

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.601566

By:

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

Publication type:

Article

Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature.

Published in:

2025

By:

Elghobashy, Maiar;
Pohl, Ute;
Bateman, James;
Saadeh, Constantine

Publication type:

Case Study

Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.

Published in:

Lung (0341-2040), 2013, v. 191, n. 5, p. 537, doi. 10.1007/s00408-013-9489-x

By:

Vianello, Andrea;
Semplicini, Claudio;
Paladini, Luciana;
Concas, Alessandra;
Ravaglia, Sabrina;
Servidei, Serenella;
Toscano, Antonio;
Mongini, Tiziana;
Angelini, Corrado;
Pegoraro, Elena

Publication type:

Article

Molecular basis for the regulation of human phosphorylase kinase by phosphorylation and Ca2+.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-58363-8

By:

Ma, Ruifang;
Du, Bowen;
Shi, Chen;
Wang, Lei;
Zeng, Fuxing;
Han, Jie;
Guan, Huiyi;
Wang, Yong;
Yan, Kaige

Publication type:

Article

Liver fibrosis negatively impacts in vivo gene transfer to murine hepatocytes.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57383-8

By:

Simoni, Chiara;
Nozi, Justine;
Starinieri, Francesco;
La Bella, Tiziana;
Manta, Elisabetta;
Negri, Camilla;
Biffi, Mauro;
Norata, Rossana;
Rocchi, Martina;
Sanvito, Francesca;
Ronzitti, Giuseppe;
Barbon, Elena;
Cantore, Alessio

Publication type:

Article

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54108-1

By:

Arnaoutova, Irina;
Aratyn-Schaus, Yvonne;
Zhang, Lisa;
Packer, Michael S.;
Chen, Hung-Dar;
Lee, Cheol;
Gautam, Sudeep;
Gregoire, Francine M.;
Leboeuf, Dominique;
Boule, Steven;
Fernandez, Thomas P.;
Huang, Victoria;
Cheng, Lo-I;
Lung, Genesis;
Bannister, Brianna;
Decker, Jeremy;
Leete, Thomas;
Shuang, Lan S.;
Bock, Caroline;
Kothiyal, Prachi

Publication type:

Article

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54108-1

By:

Arnaoutova, Irina;
Aratyn-Schaus, Yvonne;
Zhang, Lisa;
Packer, Michael S.;
Chen, Hung-Dar;
Lee, Cheol;
Gautam, Sudeep;
Gregoire, Francine M.;
Leboeuf, Dominique;
Boule, Steven;
Fernandez, Thomas P.;
Huang, Victoria;
Cheng, Lo-I;
Lung, Genesis;
Bannister, Brianna;
Decker, Jeremy;
Leete, Thomas;
Shuang, Lan S.;
Bock, Caroline;
Kothiyal, Prachi

Publication type:

Article

Polysaccharide storage myopathy - the story so far.

Published in:

Equine Veterinary Education, 2015, v. 27, n. 8, p. 414, doi. 10.1111/eve.12329

By:

Naylor, R. J.

Publication type:

Article

Metabolic disorders in foals.

Published in:

Equine Veterinary Education, 2012, v. 24, n. 8, p. 392, doi. 10.1111/j.2042-3292.2011.00376.x

By:

Corley, K. T. T.

Publication type:

Article

Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders.

Published in:

International Journal of Pediatrics, 2010, p. 1, doi. 10.1155/2010/254829

By:

Takken, Tim;
Groen, Wim G.;
Hulzebos, Erik H.;
Ernsting, Cornelia G.;
van Hasselt, Peter M.;
Prinsen, Berthil H.;
Helders, Paul J.;
Visser, Gepke

Publication type:

Article

Clinical and laboratory characteristics and follow up of 62 cases of ketotic hypoglycemia: a retrospective study.

Published in:

International Journal of Pediatric Endocrinology, 2019, v. 2019, n. 1, p. N.PAG, doi. 10.1186/s13633-019-0066-9

By:

Kaplowitz, Paul;
Sekizkardes, Hilal

Publication type:

Article

Geneotype and phenotype in 20 patients with glycogen storage disease type Ia.

Published in:

2013

By:

Cuili Liang;
Li Liu;
Huiying Sheng;
Minyan Jiang;
Xi Yin

Publication type:

Abstract

Frederick Pavy (1829-1911) and his Opposition to the Glycogenic Theory of Claude Bernard.

Published in:

Annals of Science, 1997, v. 54, n. 4, p. 361, doi. 10.1080/00033799700200281

By:

Tattersall, Robert

Publication type:

Article

PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.

Published in:

Einstein (16794508), 2024, v. 22, p. 1, doi. 10.31744/einstein_journal/2024AO0549

By:

de Paula van der Steld, Lenises;
de Seixas Rocha, Mario;
Teixeira Ladeia, Ana Marice;
Lago Livramento, Humberto;
Batista Campos, Gervásio;
da Costa Darrieux, Francisco Carlos;
Campuzano, Oscar;
Brugada, Ramon

Publication type:

Article

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Published in:

Neurology Asia, 2021, v. 26, n. 2, p. 427

By:

Orooj, Fizza;
Umm-e-Kalsoom;
XiaoChu Zhao;
Ahmad, Arsalan;
Ahmed, Imran Nazir;
Faheem, Muhammad;
Hassan, Muhammad Jawad;
Minasian, Berge A.

Publication type:

Article

Neuromuscular disorders in Asia and Oceania: A history of the Asian and Oceanian Myology Center (AOMC).

Published in:

Neurology Asia, 2019, v. 24, n. 1, p. 83

By:

Bretag, Allan H.

Publication type:

Article

Effects of Silymarin and Baicalein on Glycogen Storage in the Hepatocytes of Rat Models of Hepatic Injury.

Published in:

Hepatitis Monthly, 2021, v. 21, n. 3, p. 1, doi. 10.5812/hepatmon.113114

By:

Hongfei Yang;
Nasab, Didar Mehrabi;
Athari, Seyyed Shamsadin

Publication type:

Article

Liver Storage Disease in Iran: A Ten Year Study of Liver Biopsies in Children Medical Center Hospital in Tehran-Iran.

Published in:

Hepatitis Monthly, 2011, v. 11, n. 8, p. 652, doi. 10.5812/kowsar.1735143X.587

By:

Motamed, Farzaneh;
Monajemzadeh, Maryam;
Seifirad, Soroush;
Ashrafi, Mandana;
Rasti, Abbas;
Mahjoub, Fatemeh

Publication type:

Article

Summary.

Published in:: Bulletin of the University of Agricultural Sciences & Veterinary Medicine Cluj-Napoca. Veterinary Medicine, 2010, v. 67, n. 1, p. 354
Publication type:: Article