Works matching Glycogen storage disease type IV

Results: 52

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

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

Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

Published in:

Pediatric & Developmental Pathology, 2016, v. 19, n. 6, p. 512, doi. 10.2350/14-09-1557-CR.1

By:

Dainese, Linda;
Adam, Nicolas;
Boudjemaa, Sabah;
Hadid, Kamel;
Rosenblatt, Jonathan;
Jouannic, Jean-Marie;
Heron, Delphine;
Froissart, Roseline;
Coulomb, Aurore

Publication type:

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

Congenital form of glycogen storage disease type IV: A case report and a review of the literature.

Published in:

Pediatrics International, 2004, v. 46, n. 4, p. 474, doi. 10.1111/j.1442-200x.2004.01916.x

By:

Maruyama, Keinchi;
Suzuki, Tomoko;
Koizumi, Takenobu;
Sugie, Hideo;
Fukuda, Tokiko;
Ito, Masataka;
Hirato, Junko

Publication type:

Article

Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.

Published in:

2006

By:

Konstantinidou, A. E.;
Anninos, H.;
Gyftodimou, Y.;
Petersen, M. B.;
Karadimas, C.;
Fotopoulos, S.;
Paraskevakou, H.;
Akman, H. O.;
DiMauro, S.;
Patsouris, E.

Publication type:

Letter

Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV.

Published in:

Pediatrics International, 2011, v. 53, n. 1, p. 129, doi. 10.1111/j.1442-200X.2010.03282.x

By:

Mizuochi, Tatsuki;
Kimura, Akihiko;
Nishiura, Hiroshi;
Inomata, Yukihiro;
Okajima, Hideaki;
Sugie, Hideo;
Mitsubuchi, Hiroshi;
Yagi, Minoru;
Kage, Masayoshi

Publication type:

Article

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum.

Published in:

Case Reports in Medicine, 2012, p. 1, doi. 10.1155/2012/764286

By:

Aksu, Tolga;
Colak, Ayse;
Tufekcioglu, Omac

Publication type:

Article

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Published in:

1999

By:

Shen, Jianjun;
Liu, Hui-Ming;
McConkie-Rosell, Allyn;
Chen, Yuan-Tsong;
Shen, J;
Liu, H M;
McConkie-Rosell, A;
Chen, Y T

Publication type:

journal article

Liver transplantation for glycogen storage disease types I, III, and IV.

Published in:

European Journal of Pediatrics, 1999, v. 158, n. 14, p. S043, doi. 10.1007/PL00014320

By:

Matern, D.;
Starzl, T. E.;
Arnaout, W.;
Barnard, J.;
Bynon, J. S.;
Dhawan, A.;
Emond, J.;
Haagsma, E. B.;
Hug, G.;
Lachaux, A.;
Smit, G. P. A.;
Chen, Y-T.

Publication type:

Article

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

Published in:

Children, 2023, v. 10, n. 8, p. 1375, doi. 10.3390/children10081375

By:

Bezirganoglu, Handan;
Adanur Saglam, Kubra

Publication type:

Article

Ion Channels.

Published in:: Journal of Physiology, 2003, v. 547, p. 1P, doi. 10.1111/j.1469-7793.2003.tb00607.x
Publication type:: Article

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy.

Published in:

Pediatric & Developmental Pathology, 2020, v. 23, n. 4, p. 301, doi. 10.1177/1093526619890224

By:

Butler, Daniel C;
Glen Jr, W Bailey;
Schandl, Cynthia;
Phillips, Angelina

Publication type:

Article

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Published in:

Pediatric & Developmental Pathology, 2018, v. 21, n. 4, p. 423, doi. 10.1177/1093526617707852

By:

Yu, Weiming;
Brundler, Marie-Anne;
Wright, James R.

Publication type:

Article

1例糖原累积病 IV 型合并急性肝衰竭患儿急性期的护理.

Published in:

Journal of Nurses Training, 2024, v. 39, n. 13, p. 1445, doi. 10.16821/j.cnki.hsjx.2024.13.017

By:

陈湘威;
张杨;
梁秋菊;
段孟会;
邵梦烨

Publication type:

Article

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Published in:

Ultrastructural Pathology, 2015, v. 39, n. 4, p. 293, doi. 10.3109/01913123.2015.1014612

By:

Kakkar, Aanchal;
Sharma, Mehar Chand;
Nambirajan, Aruna;
Sarkar, Chitra;
Suri, Vaishali;
Gulati, Sheffali

Publication type:

Article

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Published in:

2018

By:

Szymańska, Edyta;
Szymańska, Sylwia;
Truszkowska, Grażyna;
Ciara, Elżbieta;
Pronicki, Maciej;
Shin, Yoon S.;
Podskarbi, Teodor;
Kępka, Alina;
Śpiewak, Mateusz;
Płoski, Rafał;
Bilińska, Zofia T.;
Rokicki, Dariusz

Publication type:

journal article

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63574

By:

Crane, Haley M.;
Asher, Stephanie;
Conway, Laura;
Drivas, Theodore G.;
Kallish, Staci

Publication type:

Article

Hepatoprotectivity of Panduratin A against liver damage: In vivo demonstration with a rat model of cirrhosis induced by thioacetamide.

Published in:

APMIS, 2018, v. 126, n. 9, p. 710, doi. 10.1111/apm.12878

By:

Salama, Suzy M.;
Ibrahim, Ibrahim Abdel Aziz;
Shahzad, Naiyer;
Al‐Ghamdi, Saeed;
Ayoub, Nahla;
AlRashdi, Ahmed Salim;
Abdulla, Mahmood Ameen;
Salehen, Nur'Ain;
Bilgen, Mehmet

Publication type:

Article

Glycogen storage disease (type-IV) with cirrhosis and metastatic intrathoracic neuroblastoma.

Published in:

1994

By:

Sarkar, A.;
Sarkar, S.;
Asawa, V.;
Dutta Munshi, A.;
Sarkar, A K;
Munshi, A K

Publication type:

journal article

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 255, doi. 10.1002/jimd.12692

By:

Lefèvre, Charles R.;
Collardeau‐Frachon, Sophie;
Streichenberger, Nathalie;
Berenguer‐Martin, Sophie;
Clémenson, Alix;
Massardier, Jérôme;
Prieur, Fabienne;
Laurichesse, Hélène;
Laffargue, Fanny;
Acquaviva‐Bourdain, Cécile;
Froissart, Roseline;
Pettazzoni, Magali

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 693, doi. 10.1002/jimd.12339

By:

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

Publication type:

Article

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 83, doi. 10.1007/s10545-009-9026-5

By:

Li, Sing‐Chung;
Chen, Chiao‐Ming;
Goldstein, Jennifer L.;
Wu, Jer‐Yuarn;
Lemyre, Emmanuelle;
Burrow, Thomas Andrew;
Kang, Peter B.;
Chen, Yuan‐Tsong;
Bali, Deeksha S.

Publication type:

Article

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Published in:

2009

By:

Lamperti, C.;
Salani, S.;
Lucchiari, S.;
Bordoni, A.;
Ripolone, M.;
Fagiolari, G.;
Fruguglietti, M.;
Crugnola, V.;
Colombo, C.;
Cappellini, A.;
Prelle, A.;
Bresolin, N.;
Comi, G.;
Moggio, M.

Publication type:

Report

Glycogen storage disease type IV presenting as hydrops fetalis.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 330, doi. 10.1023/A:1005568507267

By:

Alegria, A.;
Martins, E.;
Dias, M.;
Cunha, A.;
Cardoso, M.;
Maire, I.

Publication type:

Article

A typology of satisfaction with mental health services based on Andersen's behavioral model.

Published in:

2018

By:

Fortin, Marilyn;
Cao, Zhirong;
Fleury, Marie-Josée

Publication type:

journal article

PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation-specific protocol.

Published in:

Prenatal Diagnosis, 2010, v. 30, n. 2, p. 180, doi. 10.1002/pd.2435

By:

Destouni, Aspasia;
Vrettou, Christina;
Traeger-Synodinos, Joanne;
Davies, Stephen;
Mastrominas, Minas;
Kanavakis, Emmanuel

Publication type:

Article

Prenatal diagnosis of glycogen storage disease type IV.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 10, p. 951, doi. 10.1002/pd.1533

By:

Akman, H. Orhan;
Karadimas, Charalampos;
Gyftodimou, Yolanda;
Grigoriadou, Maria;
Kokotas, Haris;
Konstantinidou, Anastasia;
Anninos, Hector;
Patsouris, Efstratios;
Thaker, Harshwardhan M.;
Kaplan, Jeffrey B.;
Besharat, Isaam;
Hatzikonstantinou, Konstantina;
Fotopoulos, Spyridon;
DiMauro, Salvatore;
Petersen, Michael B.

Publication type:

Article

SYSTEMIC PROGRESSION OF TYPE IV GLYCOGEN STORAGE DISEASE (GSD IV) AFTER LIVER TRANSPLANTATION (OLT).

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 1995, v. 21, n. 3, p. 356

By:

Marchand, V;
Alvarez, F;
Rasquin-Weber, A;
Blanchard, H;
Seidman, E;
Paradis, K

Publication type:

Article

Challenges and solutions for cochlear implant rehabilitation during coronavirus disease 2019 pandemic.

Published in:

Journal of Medicine in Scientific Research, 2021, v. 4, n. 4, p. 271, doi. 10.4103/jmisr.jmisr_44_21

By:

Mostafa, Ahmed;
ElRouby, Iman;
Alsoda, Mohamed F.

Publication type:

Article

Systemic Progression of Type IV Glycogen Storage Disease After Liver Transplantation.

Published in:

2010

By:

Willot S;
Marchand V;
Rasquin A;
Alvarez F;
Martin SR

Publication type:

Journal Article

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

Published in:

2018

By:

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

Publication type:

Case Study

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

Published in:

Journal of Perinatology, 2012, v. 32, n. 10, p. 810, doi. 10.1038/jp.2011.178

By:

Escobar, L F;
Wagner, S;
Tucker, M;
Wareham, J

Publication type:

Article

A Rare Association between Left Lobe Secondary Biliary Cirrhosis and Budd-Chiari Syndrome Secondary to Hepatocellular Carcinoma in the Non-Cirrhotic Right Liver Lobe.

Published in:

Journal of Gastrointestinal & Liver Diseases, 2017, v. 26, n. 4, p. 421, doi. 10.15403/jgld.2014.1121.264.cri

By:

Fodor, Andreea;
Fit, Ana-Maria;
Farcau, Oana;
Rusu, Ioana;
Stefanescu, Horia;
Procopet, Bogdan

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.992406

By:

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

Publication type:

Article

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.

Published in:

Acta Neuropathologica, 2008, v. 116, n. 5, p. 491, doi. 10.1007/s00401-008-0417-8

By:

Nolte, Kay W.;
Janecke, Andreas R.;
Vorgerd, Matthias;
Weis, Joachim;
Schröder, J. Micheal

Publication type:

Article

A surprising cause of proteinuria: Answers.

Published in:

2022

By:

Demir, Belde Kasap;
Kanık, Ali;
Köse, Melis;
Hişmi, Burcu Öztürk;
Baran, Maşallah

Publication type:

Question & Answer

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

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1261125

By:

Abraham, Joseph R.;
Allen, Frederick M.;
Barnard, John;
Schlatzer, Daniela;
Natowicz, Marvin R.

Publication type:

Article

Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses.

Published in:

Cytogenetic & Genome Research, 2003, v. 102, n. 1-4, p. 201, doi. 10.1159/000075749

By:

Ward, T. L.;
Valberg, S. J.;
Lear, T. L.;
Guérin, G.;
Milenkovic, D.;
Swinburne, J. E.;
Binns, M. M.;
Raudsepp, T.;
Skow, L.;
Chowdhary, B. P.;
Mickelson, James R.

Publication type:

Article

Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma.

Published in:

Pediatric Transplantation, 2011, v. 15, n. 6, p. 573, doi. 10.1111/j.1399-3046.2011.01528.x

By:

Romano, Fabrizio;
Stroppa, Paola;
Bravi, Michela;
Casotti, Valeria;
Lucianetti, Alessandro;
Guizzetti, Michela;
Sonzogni, Aurelio;
Colledan, Michele;
D'Antiga, Lorenzo

Publication type:

Article

Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome.

Published in:

Pediatric & Developmental Pathology, 2003, v. 6, n. 1, p. 59, doi. 10.1007/s10024-002-0042-9

By:

Cox, Phillip M.;
Brueton, Louise A.;
Bjelogrlic, Predrag;
Pomroy, Penelope;
Sewry, Caroline A.

Publication type:

Article

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6801, doi. 10.1093/hmg/ddv385

By:

Akman, H. Orhan;
Emmanuele, Valentina;
Kurt, Yasemin Gülcan;
Kurt, Bülent;
Sheiko, Tatiana;
DiMauro, Salvatore;
Craigen, William J.

Publication type:

Article

Hepatic adenoma in a 7-year-old girl: a case report and literature review.

Published in:

BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04209-5

By:

Gao, Yan;
Zhou, Jun;
Xie, Yu-cheng;
Qiu, Li-juan;
Duan, Ling;
A, Zhi-xiang;
Wu, Hong-fang;
Lv, Meng-xing

Publication type:

Article

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Published in:

Annals of Neurology, 2000, v. 47, n. 4, p. 536, doi. 10.1002/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K

By:

Ziemssen, Focke;
Sindern, Eckhart;
Schröder, J. Michael;
Shin, Yoon S.;
Zange, Jahen;
Kilimann, Manfred W.;
Malin, Jean-Pierre;
Vorgerd, Matthias

Publication type:

Article

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr<sup>329</sup> Ser mutation in the glycogen-branching enzyme gene.

Published in:

Annals of Neurology, 1998, v. 44, n. 6, p. 867, doi. 10.1002/ana.410440604

By:

Lossos, Alexander;
Meiner, Zeev;
Barash, Varda;
Soffer, Dov;
Schlesinger, Ilana;
Abramsky, Oded;
Argov, Zohar;
Shpitzen, Shoshi;
Meiner, Vardiella

Publication type:

Article

Update on polyglucosan storage diseases.

Published in:

2019

By:

Cenacchi, Giovanna;
Papa, V.;
Costa, R.;
Pegoraro, V.;
Marozzo, R.;
Fanin, M.;
Angelini, C.

Publication type:

journal 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

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1149, doi. 10.1515/jpem-2013-0066

By:

Tümer, Leyla;
Kasapkara, Çiğdem Seher;
Biberoğlu,, Gürsel;
Ezgü, Fatih;
Hasanoğlu, Alev

Publication type:

Article