Works matching DE "GLYCOGEN storage disease"

Results: 753

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 3, p. 255, doi. 10.3233/PRM-140294

By:

Jones, Harrison N.;
Crisp, Kelly D.;
Moss, Tronda;
Strollo, Katherine;
Robey, Randy;
Sank, Jeffrey;
Canfield, Michelle;
Case, Laura E.;
Mahler, Leslie;
Kravitz, Richard M.;
Kishnani, Priya S.

Publication type:

Article

Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool.

Published in:

Nutrients, 2025, v. 17, n. 11, p. 1758, doi. 10.3390/nu17111758

By:

Sartor, Bárbara Cristina Pezzi;
de Oliveira, Bibiana Mello;
Teruya, Katia Irie;
Farret, Lilia Ramos;
Tonon, Tássia;
Scortegagna, Mariana Lima;
Diniz, Patrícia Barcellos;
de Souza, Carolina Fischinger Moura

Publication type:

Article

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus—Why It Is Not Benign and Requires Vigilance.

Published in:

Genes, 2025, v. 16, n. 5, p. 584, doi. 10.3390/genes16050584

By:

Candela, Egidio;
Montanari, Giulia;
Zanaroli, Andrea;
Baronio, Federico;
Ortolano, Rita;
Biasucci, Giacomo;
Lanari, Marcello

Publication type:

Article

Updated Gene Therapy for Renal Inborn Errors of Metabolism.

Published in:

Genes, 2025, v. 16, n. 5, p. 516, doi. 10.3390/genes16050516

By:

Hergenrother, Sean;
Husein, Mustafa;
Thompson, Cole;
Kalina, Ethan;
Raina, Rupesh

Publication type:

Article

Cellular Metabolic Disorders in a Cohort of Patients with Sjogren's Disease.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4668, doi. 10.3390/ijms26104668

By:

Ambrus, Julian L.;
Jacob, Alexander;
Shukla, Abhay A.

Publication type:

Article

Walking with the ventilator: A rare case of Pompe's disease with a review of literature.

Published in:

2018

By:

Ramrakhiani, Neetu;
Agarwal, Khusboo;
Bansal, Ankit

Publication type:

journal article

Successful pregnancy in a woman with glycogen storage disease type III.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2006, v. 46, n. 2, p. 168, doi. 10.1111/j.1479-828X.2006.00549.x

By:

Bhatti, Shazia;
Parry, Emma

Publication type:

Article

REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B.

Published in:

Turkish Medical Student Journal, 2024, v. 11, n. 2, p. 50, doi. 10.4274/tmsj.galenos.2024.2024-2-1

By:

Özkan, Hasan Selçuk;
Aydın, Ece Derin;
Mammadova, Sakina;
Çoker, Mahmut

Publication type:

Article

Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 16, doi. 10.3390/ijns11010016

By:

Ron, Hayley A.;
Kane, Owen;
Guo, Rose;
Menello, Caitlin;
Engelhardt, Nicole;
Pressley, Shaney;
DiBoscio, Brenda;
Steffensen, Madeline;
Cuddapah, Sanmati;
Ng, Kim;
Ficicioglu, Can;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 20, doi. 10.3390/ijns9020020

By:

Singh, Sikha;
Ojodu, Jelili;
Kemper, Alex R.;
Lam, Wendy K. K.;
Grosse, Scott D.

Publication type:

Article

Value of neutrophil gelatinase-associated lipocalin in the diagnosis of renal disorders in children with glycogen storage disease.

Published in:

Alexandria Journal of Pediatrics, 2024, v. 37, n. 3, p. 212, doi. 10.4103/ajop.ajop_27_24

By:

Mohamed, Nashwa F.;
Behairy, Ola G.;
Assar, Effat H.;
Fayek, Hend T.;
Abdelmotaleb, Dina S.

Publication type:

Article

Assessment of thyroid function in children and adolescents with chronic liver diseases.

Published in:

Alexandria Journal of Pediatrics, 2024, v. 37, n. 1, p. 60, doi. 10.4103/ajop.ajop_10_24

By:

Mahfouz, Aml A.;
Hassan, Azza;
Raafat, Shaymaa

Publication type:

Article

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

Published in:

JAMA Network Open, 2025, v. 8, n. 2, p. e2461888, doi. 10.1001/jamanetworkopen.2024.61888

By:

Xia, Yu;
Sun, Yu;
Du, Taozi;
Sun, Chengkai;
Xu, Ying;
Ge, Wensong;
Liang, Lili;
Wang, Ruifang;
Sun, Manqing;
Xiao, Bing;
Qiu, Wenjuan

Publication type:

Article

Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 3, p. 1, doi. 10.1210/jendso/bvac008

By:

Fujita, Shingo;
Horitani, Emi;
Miyashita, Yohei;
Fujita, Yukari;
Fukui, Kenji;
Kamada, Yoshihiro;
Mineo, Ikuo;
Asano, Yoshihiro;
Iwahashi, Hiromi;
Kozawa, Junji;
Shimomura, Iichiro

Publication type:

Article

Acute Hepatitis due to Hepatic Glycogenosis After Insulin Overdose and Oral Glucose Administration in an Adolescent.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 11, p. 1, doi. 10.1210/jendso/bvab142

By:

Pillai, Sabitha Sasidharan;
Quintos, Jose Bernardo;
Topor, Lisa Swartz

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

Análisis clínico, molecular y bioinformático de paciente con enfermedad de Cori-Forbes en el Suroccidente Colombiano.

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2022, v. 1, n. 34, p. 10, doi. 10.47499/revistaaccb.v1i34.252

By:

Johanna Moreno-Giraldo, Lina;
Luis Estela-Zape, José;
Arturo-Terranova, Daniela;
María Satizábal-Soto, José

Publication type:

Article

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2186, doi. 10.1002/acn3.51211

By:

Chown, Erin E.;
Wang, Peixiang;
Zhao, Xiaochu;
Crowder, Justin J.;
Strober, Jordan W.;
Sullivan, Mitchell A.;
Xue, Yunlin;
Bennett, Cody S.;
Perri, Ami M.;
Evers, Bret M.;
Roach, Peter J.;
Depaoli‐Roach, Anna A.;
Akman, H. Orhan;
Pederson, Bartholomew A.;
Minassian, Berge A.

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

Catheter Ablation of Atrial Fibrillation in Infiltrative Cardiomyopathies: A Narrative Review.

Published in:

Journal of Cardiovascular Electrophysiology, 2025, v. 36, n. 1, p. 276, doi. 10.1111/jce.16487

By:

Satish, Vikyath;
Maliha, Maisha;
Chi, Kuan‐Yu;
Kharawala, Amrin;
Seo, Jiyoung;
Apple, Samuel;
Alhuarrat, Majd Al Deen;
Palaiodimos, Leonidas;
Di Biase, Luigi;
Krumerman, Andrew;
Ferrick, Kevin

Publication type:

Article

Exercise in the fasted state facilitates fibre type-specific intramyocellular lipid breakdown and stimulates glycogen resynthesis in humans.

Published in:

Journal of Physiology, 2005, v. 564, n. 2, p. 649, doi. 10.1113/jphysiol.2005.083170

By:

De Bock, K.;
Richter, E. A.;
Russell, A. P.;
Eijnde, B. O.;
Derave, W.;
Ramaekers, M.;
Koninckx, E.;
Léger, B.;
Verhaeghe, J.;
Hespel, P.

Publication type:

Article

Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.

Published in:

2016

By:

TOMOHIRO IGUCHI;
MOTOYUKI YAMAGATA;
TAKASHI SONODA;
KIMIHIKO YANAGITA;
TETSUHIRO FUKAHORI;
EIJI TSUJITA;
SHINICHI AISHIMA;
YOSHINAO ODA;
YOSHIHIKO MAEHARA

Publication type:

Case Study

Brain Glycogen—Its Metabolic Role in Neuronal Health and Neurological Disorders—An Extensive Narrative Review.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 2, p. 128, doi. 10.3390/metabo15020128

By:

Beltran-Velasco, Ana Isabel

Publication type:

Article

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 9, p. 873, doi. 10.3390/metabo12090873

By:

Colonetti, Karina;
de Carvalho, Evelise Leis;
Rangel, Darlene Lopes;
Pinto, Paulo Marcos;
Roesch, Luiz Fernando Wurdig;
Pinheiro, Franciele Cabral;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 7, p. 446, doi. 10.3390/metabo11070446

By:

Saville, Jennifer T.;
Fuller, Maria

Publication type:

Article

Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 4, p. 133, doi. 10.3390/metabo10040133

By:

Ceccarani, Camilla;
Bassanini, Giulia;
Montanari, Chiara;
Casiraghi, Maria Cristina;
Ottaviano, Emerenziana;
Morace, Giulia;
Biasucci, Giacomo;
Paci, Sabrina;
Borghi, Elisa;
Verduci, Elvira

Publication type:

Article

Glucose-6 Phosphate, a Central Hub for Liver Carbohydrate Metabolism.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 12, p. 282, doi. 10.3390/metabo9120282

By:

Rajas, Fabienne;
Gautier-Stein, Amandine;
Mithieux, Gilles

Publication type:

Article

Clinical, muscle pathology and molecular biological features of late - onset glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 6, p. 466, doi. 10.3969/j.issn.1672-6731.2021.06.007

By:

WU Shi-tao;
LIU Fang;
SHI Wei-wei;
ZHANG Min;
LIU Heng-fang

Publication type:

Article

Countermeasures of six difficult-to-wean patients with severe glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 6, p. 393, doi. 10.3969/j.issn.1672-6731.2019.06.004

By:

XU Ling-ling;
LIANG Yu-jian;
LI Su-ping;
HUANG Xue-qiong;
ZHANG Li-dan;
PEI Yu-xin;
HUANG Hui-min;
ZHANG Cheng;
TANG Wen;
FAN Zhong

Publication type:

Article

History of glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 563, doi. 10.3969/j.issn.1672-6731.2018.08.002

By:

ZHANG Cheng;
WANG Liang

Publication type:

Article

Research progress of electrophysiology for the diagnosis of metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 6, p. 468, doi. 10.3969/j.issn.1672-6731.2014.06.002

By:

ZHAO Lei;
CUI Li-ying

Publication type:

Article

Strengthen the early diagnosis and treatment of metabolic myopathy in China.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 6, p. 465, doi. 10.3969/j.issn.1672-6731.2014.06.001

By:

ZHANG Cheng

Publication type:

Article

Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease type II".

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 378, doi. 10.3969/j.issn.1672.6731.2014.05.003

By:

GUAN Hong-zhi;
CUI Li-ying

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 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 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

Evidence.based treatment of metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 393, doi. 10.3969/j.issn.1672.6731.2014.05.006

By:

LIN Yan;
ZHANG Wen-wu;
LIU Ling

Publication type:

Article

Progress in genetic diagnosis and management of glycogen storage disease type II.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 386, doi. 10.3969/j.issn.1672.6731.2014.05.005

By:

ZHANG Cheng;
YANG Juan

Publication type:

Article

Research highlights of partial neuromuscular disorders.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 382, doi. 10.3969/j.issn.1672.6731.2014.05.004

By:

ZHANG Cheng

Publication type:

Article

History of study on metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 368, doi. 10.3969/j.issn.1672.6731.2014.05.002

By:

YIN Jian;
HOU Shi-fang;
WANG Cui-di;
GUO Hong;
XU Xian-hao

Publication type:

Article

Successful treatment of diabetes associated with glycogen storage disease type Ia.

Published in:

2021

By:

Yuan, X.;
Ma, W.;
Wu, X.;
Xing, X.;
Li, Y.;
Wang, O.;
Zhang, H.;
Yang, H.

Publication type:

Case Study

AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease.

Published in:

Clinical Kidney Journal, 2012, v. 5, n. 6, p. 559, doi. 10.1093/ckj/sfs143

By:

Dick, Jonathan;
Kumar, Nicola;
Horsfield, Catherine;
Jayawardene, Satish

Publication type:

Article

Hepatic membrane antibodies: studies of prevalence and specificity.

Published in:

Clinical & Experimental Immunology, 1985, v. 62, n. 3, p. 715

By:

Lee, W. M.;
Martin, Kylie L.;
Shelton, Linda L.;
Galbraith, R. M.

Publication type:

Article

Familial polyglucosan body myopathy with unusual phenotype.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 385, doi. 10.1111/nan.12171

By:

Fanin, Marina;
Nascimbeni, Anna Chiara;
Savarese, Marco;
Papa, Valentina;
Cenacchi, Giovanna;
Nigro, Vincenzo;
Angelini, Corrado

Publication type:

Article

McArdle disease and sporadic inclusion body myositis.

Published in:

2009

By:

Scarpelli, M.;
Vattemi, G.;
Filosto, M.;
Krause, S.;
Marini, M.;
Tomelleri, G.;
Tonin, P.

Publication type:

Other

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.

Published in:

Neuropathology & Applied Neurobiology, 2007, v. 33, n. 5, p. 544, doi. 10.1111/j.1365-2990.2007.00839.x

By:

Schoser, B. G. H.;
Müller-Höcker, J.;
Horvath, R.;
Gempel, K.;
Pongratz, D.;
Lochmüller, H.;
Müller-Felber, W.

Publication type:

Article

Hepatocellular adenoma in type Ia glycogen storage disease.

Published in:

2001

By:

Kudo, Masatoshi

Publication type:

Editorial

Hepatic adenomas treated with percutaneous ethanol injection in a patient with glycogen storage disease type Ia.

Published in:

Journal of Gastroenterology, 2001, v. 36, n. 1, p. 52, doi. 10.1007/s005350170155

By:

Yoshikawa, Masahide;
Fukui, Kenichi;
Kuriyama, Shigeki;
Tsujimoto, Tatsuhiro;
Nakatani, Yoshihiro;
Toyokawa, Yasunori;
Kurematsu, Yukako;
Awata, Junko;
Shiroi, Akira;
Fukui, Hiroshi;
Tsutsumi, Masahiro

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

Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.

Published in:

2020

By:

Mogahed, Engy A.;
Sayed, Al-Hussien A.;
Khalifa, Sara E.;
El-Hennawy, Ahmed;
El-Raziky, Mona S.

Publication type:

journal article