Works matching Glycogen storage disease

Results: 2500

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

HİPO VE HİPERGLİSEMİNİN NADİR BİR NEDENİ; GLİKOJEN DEPO HASTALIĞI TİP 0: OLGU SUNUMU.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 3, p. 454, doi. 10.26650/IUITFD.2020.0040

By:

KARACA, Meryem;
ASLAN, Halil

Publication type:

Article

In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI.

Published in:

Magnetic Resonance in Medicine, 2024, v. 91, n. 3, p. 1115, doi. 10.1002/mrm.29923

By:

Zeng, Qing;
Machado, Michael;
Bie, Chongxue;
van Zijl, Peter C. M.;
Malvar, Sofi;
Li, Yuguo;
D'souza, Valentina;
Poon, Kirsten Achilles;
Grimm, Andrew;
Yadav, Nirbhay N.

Publication type:

Article

Hipogliseminin Nadir Bir Nedeni: Glikojen Depo Hastalığı Tip 0.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2019, v. 28, n. 1, p. 43, doi. 10.5336/pediatr.2018-60611

By:

KİREL, Birgül;
ULUALAN, Gökçen;
HAZER, İlhan;
EREN, Makbule

Publication type:

Article

Neurological Characteristics of Pediatric Glycogen Storage Disease.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. 1, doi. 10.3389/fendo.2021.685272

By:

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

Publication type:

Article

Generation of iPSC Lines from Family with Glycogen Storage Disease Type Ia.

Published in:

Russian Journal of Developmental Biology, 2025, v. 56, n. 1, p. 57, doi. 10.1134/S1062360425700067

By:

Panchuk, I. O.;
Grigorieva, O. V.;
Kondrateva, E. V.;
Kurshakova, E. V.;
Petrova, I. O.;
Voronina, E. S.;
Pozhitnova, V. O.;
Shchagina, O. A.;
Tabakov, V. Yu.;
Strokova, T. V.;
Lavrov, A. V.;
Smirnikhina, S. A.;
Kutsev, S. I.

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

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

Glycogen Storage Disease Type IIIa Presenting with Hyperglycemia: A Novel Mutation.

Published in:

2020

By:

GÜVEN, Mehmet;
ŞİMŞEK, Mehmet;
GÜNEŞ, Müslüm;
TEKEŞ, Selahattin

Publication type:

Case Study

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

The Effect of Intercellular Adhesion Molecule-1 Gene Polymorphism on Atherosclerosis in Patients with Glycogen Storage Disease Type 1.

Published in:

Journal of Pediatric Research, 2015, v. 2, n. 1, p. 7, doi. 10.4274/jpr.09719

By:

Uçar, Sema Kalkan;
Akman, Sezin;
Berdeli, Afig;
Çoker, Mahmut

Publication type:

Article

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.

Published in:

2017

By:

Cohn, Aviva;
Ohri, Anupam

Publication type:

journal article

Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II).

Published in:

Analytical & Bioanalytical Chemistry, 2023, v. 415, n. 27, p. 6863, doi. 10.1007/s00216-023-04964-5

By:

Ren, Jianwei;
Ma, Yufang;
Ma, Mingsheng;
Ding, Juan;
Jiang, Jingjing;
Zheng, Xin;
Han, Xiaohong

Publication type:

Article

Anaesthetic management for orthotopic liver transplantation in a patient with glycogen storage disease type IIIa.

Published in:

2023

By:

Haka, D.;
Çekmen, N.

Publication type:

Case Study

Glycogen storage disease type VI: clinical course and molecular background.

Published in:

2020

By:

Aeppli, Tim RJ;
Rymen, Daisy;
Allegri, Gabriella;
Bode, Peter K;
Häberle, Johannes

Publication type:

journal article

Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.

Published in:

Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022

By:

Melis, D.;
Pivonello, R.;
Cozzolino, M.;
Della Casa, R.;
Balivo, F.;
Del Puente, a.;
Dionisi-Vici, C.;
Cotugno, G.;
Zuppaldi, C.;
Rigoldi, M.;
Parini, R.;
Colao, a.;
andria, G.;
Parenti, G.

Publication type:

Article

Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 232, doi. 10.3390/ijms24010232

By:

Lenzini, Livia;
Iori, Elisabetta;
Scannapieco, Federico;
Carraro, Gianni;
Avogaro, Angelo;
Vitturi, Nicola

Publication type:

Article

Biomarkers in Glycogen Storage Diseases: An Update.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4381, doi. 10.3390/ijms22094381

By:

Molares-Vila, Alberto;
Corbalán-Rivas, Alberte;
Carnero-Gregorio, Miguel;
González-Cespón, José Luís;
Rodríguez-Cerdeira, Carmen;
Bax, Bridget E.

Publication type:

Article

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Published in:

Journal of Neurology, 2008, v. 255, n. 6, p. 831, doi. 10.1007/s00415-008-0714-0

By:

Wan, L.;
Lee, C.-C.;
Hsu, C.-M.;
Hwu, W.-L.;
Yang, C.-C.;
Tsai, C.-H.;
Tsai, F.-J.

Publication type:

Article

Medium-Chain Triglyceride Oil and Dietary Intervention Improved Body Composition and Metabolic Parameters in Children with Glycogen Storage Disease Type 1 in Jordan: A Clinical Trial.

Published in:

Foods, 2024, v. 13, n. 7, p. 1091, doi. 10.3390/foods13071091

By:

Subih, Hadil S.;
Qudah, Reem A.;
Janakat, Sana;
Rimawi, Hanadi;
Elsahoryi, Nour Amin;
Alyahya, Linda

Publication type:

Article

Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family.

Published in:

Khyber Medical University Journal, 2025, v. 17, n. 1, p. 26

By:

Nazir, Zeeshan;
Jelani, Musharraf;
Wasif, Naveed;
Alam, Fakhar

Publication type:

Article

PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 516, doi. 10.1590/1984-0462/;2019;37;4;00005

By:

Alves de Tommaso, Adriana Maria;
Hessel, Gabriel;
Gut Riccetto, Adriana;
de Oliveira Semenzati, Graziela;
Jordão Gusmão, Reinaldo

Publication type:

Article

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.932760

By:

Rui Dong;
Xuxia Wei;
Kaihui Zhang;
Fengling Song;
Yuqiang Lv;
Min Gao;
Dong Wang;
Jian Ma;
Zhongtao Gai;
Yi Liu

Publication type:

Article

Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and Treatment.

Published in:

Ultrastructural Pathology, 2011, v. 35, n. 5, p. 183, doi. 10.3109/01913123.2011.601404

By:

Hicks, John;
Wartchow, Eric;
Mierau, Gary

Publication type:

Article

Dental findings in a child with glycogen storage disease type IA.

Published in:

Quintessence International, 2007, v. 38, n. 1, p. e36

By:

Avsar, Aysun

Publication type:

Article

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Published in:

Thyroid, 2019, v. 29, n. 8, p. 1158, doi. 10.1089/thy.2019.0007

By:

Zhou, Jin;
Waskowicz, Lauren R.;
Lim, Andrea;
Liao, Xiao-Hui;
Lian, Brian;
Masamune, Hiroko;
Refetoff, Samuel;
Tran, Brian;
Koeberl, Dwight D.;
Yen, Paul M.

Publication type:

Article

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.945280

By:

Kun Huang;
Hui-Qian Duan;
Qiu-Xiang Li;
Yue-Bei Luo;
Fang-Fang Bi;
Huan Yang

Publication type:

Article

Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease.

Published in:

Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.579981

By:

Hannibal, Luciana;
Theimer, Jule;
Wingert, Victoria;
Klotz, Katharina;
Bierschenk, Iris;
Nitschke, Roland;
Spiekerkoetter, Ute;
Grünert, Sarah C.

Publication type:

Article

GLYCOGEN STORAGE DISEASE - TYPE 3.

Published in:

Pediatric Oncall Journal, 2024, v. 21, n. 1, p. 59, doi. 10.7199/ped.oncall.2024.8

By:

Suhani Jain;
Shah, Ira

Publication type:

Article

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Published in:

Turkish Journal of Pediatrics, 2022, v. 64, n. 4, p. 658, doi. 10.24953/turkjped.2022.142

By:

Şanlı, Merve Emecen;
Gökay, Nuriye Yıldırım;
Tutar, Hakan;
Gündüz, Bülent;
Özsaydı, Ekin;
Kılıç, Ayşe;
İnci, Aslı;
Okur, İlyas;
Ezgü, Fatih;
Tümer, Leyla

Publication type:

Article

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 581, doi. 10.24953/turkjped.2018.05.018

By:

Hacıhamdioğlu, Bülent;
Özgürhan, Gamze;
Çaran, Bahar;
Meydan-Aksanlı, Evrim;
Keskin, Ece

Publication type:

Article

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Published in:

Animals (2076-2615), 2023, v. 13, n. 8, p. 1336, doi. 10.3390/ani13081336

By:

Rakib, Tofazzal Md;
Islam, Md Shafiqul;
Tanaka, Shigeki;
Yabuki, Akira;
Pervin, Shahnaj;
Maki, Shinichiro;
Faruq, Abdullah Al;
Tacharina, Martia Rani;
Yamato, Osamu

Publication type:

Article

Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.

Published in:

International Journal of Organ Transplantation Medicine, 2017, v. 8, n. 4, p. 217

By:

Zobeiri, M.

Publication type:

Article

MOLECULAR DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I: A REVIEW.

Published in:

EXCLI Journal, 2019, v. 18, p. 30, doi. 10.17179/excli2018-1877

By:

Beyzaei, Zahra;
Geramizadeh, Bita

Publication type:

Article

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Published in:

Molecular Biology Reports, 2014, v. 41, n. 9, p. 6211, doi. 10.1007/s11033-014-3500-3

By:

Aryani, Omid;
Manshadi, Masoumeh;
Tondar, Mahdi;
Khalili, Elham;
Kamalidehghan, Behnam;
Ahmadipour, Fatemeh;
Fani, Somayeh;
Houshmand, Massoud

Publication type:

Article

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

Published in:

2020

By:

Lyo, Shawn;
Miles, Jeremy;
Meisner, Jay;
Guelfguat, Mark

Publication type:

Case Study

IDENTIFICATION OF p.HIS119LEU MUTATION IN THE G6PC GENE OF A VIETNAMESE PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE Ia.

Published in:

Journal of Biology / TẠp chí Sinh HỌc, 2020, v. 42, n. 2, p. 93, doi. 10.15625/2615-9023/v42n2.14898

By:

Nguyen Huy Hoang;
Vu Chi Dung;
Nguyen Van Tung;
Nguyen Ngoc Lan;
Ha Thi Dung

Publication type:

Article

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

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 3, p. 217, doi. 10.1002/acn3.394

By:

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

Publication type:

Article

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Published in:

2024

By:

Zamanfar, Daniel;
Hashemi-Soteh, Seyed MohammadBagher;
Ghazaiean, Mobin;
Keyhanian, Elham

Publication type:

Case Study

Reproducibility and Absolute Quantification of Muscle Glycogen in Patients with Glycogen Storage Disease by <sup>13</sup>C NMR Spectroscopy at 7 Tesla.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108706

By:

Heinicke, Katja;
Dimitrov, Ivan E.;
Romain, Nadine;
Cheshkov, Sergey;
Ren, Jimin;
Malloy, Craig R.;
Haller, Ronald G.

Publication type:

Article

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management.

Published in:

2021

By:

Szymańska, Edyta;
Jóźwiak-Dzięcielewska, Dominika A.;
Gronek, Joanna;
Niewczas, Marta;
Czarny, Wojciech;
Rokicki, Dariusz;
Gronek, Piotr

Publication type:

journal article

Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report.

Published in:

Therapeutic Advances in Gastroenterology, 2023, p. 1, doi. 10.1177/17562848231202138

By:

Calia, Margherita;
Arosio, Andrea Mario Luciano;
Crescitelli, Viola;
Fornari, Anna;
Pretese, Roberta;
Gasperini, Serena;
Zuin, Giovanna

Publication type:

Article

Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report.

Published in:

Therapeutic Advances in Gastroenterology, 2023, v. 16, p. 1, doi. 10.1177/17562848231202138

By:

Calia, Margherita;
Luciano Arosio, Andrea Mario;
Crescitelli, Viola;
Fornari, Anna;
Pretese, Roberta;
Gasperini, Serena;
Zuin, Giovanna

Publication type:

Article

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 207, doi. 10.5114/pedm.2022.116115

By:

Kaczor, Magdalena;
Wesół-Kucharska, Dorota;
Greczan, Milena;
Kierus, Karolina;
Kałużny, Łukasz;
Duś-Żuchowska, Monika;
vel Emczyńska-Seliga, Ewa Ehmke;
Ciara, Elżbieta;
Książyk, Janusz;
Rokicki, Dariusz

Publication type:

Article

Secondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature.

Published in:

2021

By:

Aggarwal, Anshita;
Patel, Deepika;
Kulshreshtha, Bindu

Publication type:

Case Study

Glycogen Storage Disease in Pediatric Population.

Published in:

Egyptian Journal of Hospital Medicine, 2018, v. 70, n. 12, p. 2067, doi. 10.12816/0045030

By:

Mofarih Assiri, Yara;
Mohammed Iqbal, Marium;
Ali Almanie, Reem;
Eed Alotaibi, Atheer;
Alharbi, Abdullah S.;
Al Jobran, Bayan Sultan;
Abbag, Huda F.;
Almoghrabi, Mohammed Younes;
Jarad, Fahad Abdulaziz;
Asiri, Ashwaq Y.;
Alotaibi, Mohammad Abdullah;
Alshammari, Wejdan Hamed;
Mohammed Alenezi, Hadil;
Abdrabalameer Alghafli, Badoor;
Tobaigi, Saad Mahmoud;
AlJuhani, Amro Sulaiman;
Bajoaifur, Maram Mohammed;
Al Ansari, Emtenan

Publication type:

Article

Glycogen Storage Disease in Pediatric Population.

Published in:

Egyptian Journal of Hospital Medicine, 2018, v. 70, n. 9, p. 1539, doi. 10.12816/0044680

By:

Assiri, Yara Mofarih;
Iqbal, Marium Mohammed;
Almanie, Reem Ali;
Alotaibi, Atheer Eed;
Alharbi, Faris Abdullah S.;
Al Jobran, Bayan Sultan;
Abbag, Huda F.;
Almoghrabi, Mohammed Younes;
Jarad, Fahad Abdulaziz;
Asiri, Ashwaq Y.;
Alotaibi, Mohammad Abdullah;
Alshammari, Wejdan Hamed;
Alenezi, Hadil Mohammed;
Alghafli, Badoor Abdrabalameer;
Tobaigi, Saad Mahmoud;
AlJuhani, Amro Sulaiman;
Bajoaifur, Maram Mohammed;
Al Ansari, Emtenan

Publication type:

Article

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03570-1

By:

Zhang, Xiaoyan;
Su, Zexiong;
Wu, Jiaxing;
Zeng, Hanshi;
Jiang, Xun;
Wang, Ying;
Shen, Huiqing;
Xie, Xiaoli;
Xiao, Yuan;
Tang, Qing;
Luo, Xiaoping;
Zhong, Xuemei;
Chen, Huan;
Lan, Jiaoli;
Chen, Yongxin;
Zeng, Xiaolu;
Zhang, Huiqiong;
Li, Zhiling;
Zhang, Yuxin;
Yang, Min

Publication type:

Article

Clinical study of respiratory function in patients with late - onset glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 399, doi. 10.3969/j.issn.1672.6731.2014.05.007

By:

JIN Wei-na;
QUE Cheng-li;
TANG Hai-yan;
HUANG Yu;
WANG Zhao-xia;
LIU Xiao;
LÜ He;
ZHANG Wei;
YUAN Yun

Publication type:

Article

Clinical efficacy of Myozyme on one ventilator dependent patient with late - onset glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 411, doi. 10.3969/j.issn.1672.6731.2014.05.009

By:

YANG Juan;
FENG Wei-xun;
CAO Ji-qing;
WANG Yan-yun;
LI Ya-qin;
HUANG Shi-biao;
LUO Yan-jun;
LIU Zhuo-lin;
SUN Yi-ming;
LIU Zhen-hua;
ZHANG Cheng

Publication type:

Article