Works matching Glycogen storage disease

Results: 2437

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

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

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

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

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

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

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

Glikojen Depo Hastalığı Olan Pediyatrik Hastada Volatil Anestezi ve Kaudal Blok Uygulaması.

Published in:

2009

By:

Köner, Özge;
Sözübir, Selami;
Türe, Hatice;
Sayın, Murat;
Gülcan, Mahir

Publication type:

Case Study

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

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

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

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

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

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

Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.

Published in:

Pediatric Hematology & Oncology, 2018, v. 35, n. 1, p. 45, doi. 10.1080/08880018.2018.1440675

By:

Li, Amanda M.;
Thyagu, Santhosh;
Maze, Dawn;
Schreiber, Richard;
Sirrs, Sandra;
Stockler-Ipsiroglu, Sylvia;
Sutherland, Heather;
Vercauteren, Suzanne;
Schultz, Kirk R.

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

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

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

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

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

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

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

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

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.

Published in:

2021

By:

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

Publication type:

journal article

Patients with glycogen storage diseases undergoing anesthesia: a case series.

Published in:

BMC Anesthesiology, 2017, v. 17, p. 1, doi. 10.1186/s12871-017-0428-x

By:

Gurrieri, Carmelina;
Sprung, Juraj;
Weingarten, Toby N.;
Warner, Mary E.

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

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

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

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

Glikojen Depo Hastalığı Tip III'lü Olguda Perioperatif Anestezik Yaklaşım.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2008, v. 30, n. 4, p. 288

By:

Biçer, Cihangir;
Öner, Mithat;
Ülgey, Ayşe;
Boyacı, Adem

Publication type:

Article

Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b.

Published in:

Pediatric Dermatology, 2021, v. 38, n. 5, p. 1302, doi. 10.1111/pde.14767

By:

Teufel‐Schäfer, Ulrike;
Huhn, Christian;
Müller, Sabine;
Müller, Christoph;
Grünert, Sarah Catharina

Publication type:

Article

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

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 2, p. 204, doi. 10.1177/0883073811415107

By:

Li, Sing-Chung;
Hwu, Wuh-Liang;
Lin, Ju-Li;
Bali, Deeksha S.;
Yang, Chen;
Chu, Shih-Ming;
Chien, Yin-Hsiu;
Chou, Hung-Chieh;
Chen, Chien-Yi;
Hsieh, Wu-Shiun;
Tsao, Po-Nien;
Chen, Yuan-Tsong;
Lee, Ni-Chung

Publication type:

Article

A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 3, p. 349, doi. 10.1177/0883073807309248

By:

Raju, G. Praveen;
Hsin-Chang Li;
Bali, Deeksha S.;
Yuan-Tsong Chen;
Urion, David K.;
Lidov, Hart G. W.;
Kang, Peter B.

Publication type:

Article

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

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

Clinical features and genetic analysis of 7 patients with late - onset glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 405, doi. 10.3969/j.issn.1672.6731.2014.05.008

By:

YANG Juan;
CAO Ji-qing;
LIU Zhen-hua;
ZHAN Yi-xin;
LIANG Ying-yin;
MO Gui-ling;
LI Ya-qin;
SUN Yi-ming;
LI Min-zi;
LI Jing;
ZHANG Cheng

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

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