Works matching Glycogen storage disease type II

Results: 1057

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

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

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

Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis.

Published in:

European Neurology, 2012, v. 67, n. 2, p. 65, doi. 10.1159/000334398

By:

Papadimas, G.K.;
Spengos, K.;
Papadopoulos, C.;
Manta, P.

Publication type:

Article

3 例糖原贮积症Ⅱ型患儿的临床特点及 GAA 基因突变分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2017, v. 19, n. 10, p. 1092, doi. 10.7499/j.issn.1008-8830.2017.10.012

By:

袁姗;
江杰;
查鹭婷;
杨作成

Publication type:

Article

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w

By:

Parenti, Giancarlo;
Fecarotta, Simona;
Alagia, Marianna;
Attaianese, Federica;
Verde, Alessandra;
Tarallo, Antonietta;
Gragnaniello, Vincenza;
Ziagaki, Athanasia;
Guimaraes, Maria Jose';
Aguiar, Patricio;
Hahn, Andreas;
Azevedo, Olga;
Donati, Maria Alice;
Kiec-Wilk, Beata;
Scarpa, Maurizio;
van der Beek, Nadine A. M. E.;
Del Toro Riera, Mireja;
Germain, Dominique P.;
Huidekoper, Hidde;
van den Hout, Johanna M. P.

Publication type:

Article

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.839263

By:

Zhang, Huiting;
Chen, Jun;
Zhu, Yuchang;
Ma, Xiaotang;
Zhong, Wangtao

Publication type:

Article

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

Published in:

Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/926510

By:

Hiew Fu Liong;
Abdul Wahab, Siti Aishah;
Yusnita Yakob;
Ngu Lock Hock;
Wong Kum Thong;
Viswanathan, Shanthi

Publication type:

Article

Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09328-0

By:

Nagy, Janice A.;
Semple, Carson;
Riveros, Daniela;
Sanchez, Benjamin;
Rutkove, Seward B.

Publication type:

Article

Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09328-0

By:

Nagy, Janice A.;
Semple, Carson;
Riveros, Daniela;
Sanchez, Benjamin;
Rutkove, Seward B.

Publication type:

Article

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 422, doi. 10.1038/ejhg.2010.188

By:

Zampieri, Stefania;
Buratti, Emanuele;
Dominissini, Silvia;
Montalvo, Anna Lisa;
Pittis, Maria Gabriela;
Bembi, Bruno;
Dardis, Andrea

Publication type:

Article

Evidence of cardiomyocyte necrosis in glycogen storage disease type II.

Published in:

Annals of Clinical Biochemistry, 2007, v. 44, n. 1, p. 86, doi. 10.1258/000456307779596048

By:

Gaze, David C.;
Lawson, Graham J.;
Harris, Adam;
Collinson, Paul O.

Publication type:

Article

Enhanced Efficacy of an AAV Vector Encoding Chimeric, Highly Secreted Acid α-Glucosidase in Glycogen Storage Disease Type II.

Published in:

Molecular Therapy, 2006, v. 14, n. 6, p. 822, doi. 10.1016/j.ymthe.2006.08.001

By:

Baodong Sun;
Haoyue Zhang;
Benjamin, Daniel K.;
Brown, Talmage;
Bird, Andrew;
Young, Sarah P.;
McVie-Wylie, Alison;
Chen, Y.-T.;
Koeberl, Dwight D.

Publication type:

Article

911. Comparison of rAAV Serotype, Promoter, and Treatment Age for the Correction of Glycogen Storage Disease Type II

Published in:

2005

By:

Cresawn, Kerry O.;
Mah, Cathryn S.;
Zolotukhin, Irene;
Lewis, Melissa A.;
Byrne, Barry J.

Publication type:

Abstract

354. Correction of Respiratory Function by Recombinant AAV1 Mediated Gene Therapy in a Murine Model of Glycogen Storage Disease Type II

Published in:

2005

By:

Mah, Cathryn;
Cresawn, Kerry O.;
DeRuisseau, Lara R.;
Fuller, David;
Byrne, Barry J.

Publication type:

Abstract

Correction of glycogen storage disease type II by intramuscular administration of an adeno-associated virus 6 (AAV2/6) vector containing a muscle-specific promoter

Published in:: 2004
Publication type:: Abstract

Sustained, high-level expression of human acid alpha-glucosidase and correction of glycogen storage disease type II (GSD II) with an adeno-associated virus 8 (AAV2/8) vector containing a liver-specific promoter

Published in:: 2004
Publication type:: Abstract

Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 5, p. 672, doi. 10.1111/nan.12214

By:

Nascimbeni, Anna Chiara;
Fanin, Marina;
Tasca, Elisabetta;
Angelini, Corrado;
Sandri, Marco

Publication type:

Article

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

Published in:

Cell Death & Differentiation, 2012, v. 19, n. 10, p. 1698, doi. 10.1038/cdd.2012.52

By:

Nascimbeni, A C;
Fanin, M;
Masiero, E;
Angelini, C;
Sandri, M

Publication type:

Article

Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults.

Published in:

European Journal of Neurology, 2009, v. 16, n. 2, p. 274, doi. 10.1111/j.1468-1331.2008.02377.x

By:

Merk, T.;
Wibmer, T.;
Schumann, C.;
Krüger, S.

Publication type:

Article

Perioperative management of children with glycogen storage disease type II—Pompe disease.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 5, p. 428, doi. 10.1111/pan.13361

By:

Bosman, Linelot;
Hoeks, Sanne E.;
González Candel, Antonia;
van den Hout, Hannerieke J. M.;
van der Ploeg, Ans T.;
Staals, Lonneke M.

Publication type:

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

Regional anesthetic techniques are an alternative to general anesthesia for infants with Pompe's disease.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 7, p. 697, doi. 10.1111/j.1460-9592.2007.02196.x

By:

WALKER, ROBERT W.M.;
BRIGGS, GERAINT;
BRUCE, JAMES;
FLETCHER, JOAN;
WRAITH, E.D.

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

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

Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?

Published in:

2022

By:

Aouraghe, Hanae;
Radouani, Mohammed Amine;
Elouardighi, Ilham;
Dibi, Asmaa;
Barkat, Amina

Publication type:

Case Study

Doença de Pompe Juvenil: Estudo Retrospetivo de Casuística Clínica.

Published in:

Acta Médica Portuguesa, 2013, v. 26, n. 4, p. 361, doi. 10.20344/amp.180

By:

LOUREIRO NEVES, Filipa;
GARCIA, Paula Cristina;
MADUREIRA, Núria;
ARAÚJO, Henriqueta;
RODRIGUES, Fidjy;
ESTÊVÃO, Maria Helena;
LACERDA, Lúcia;
DIOGO MATOS, Luísa Maria

Publication type:

Article

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 35, doi. 10.1186/1750-1172-7-35

By:

Herzog, Andreas;
Hartung, Ralf;
Reuser, Arnold J. J.;
Hermanns, Pia;
Runz, Heiko;
Karabul, Nesrin;
G�kce, Seyfullah;
Pohlenz, Joachim;
Kampmann, Christoph;
Lampe, Christina;
Beck, Michael;
Mengel, Eugen

Publication type:

Article

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0692-0

By:

Xu, Lingling;
Ba, Hongjun;
Pei, Yuxin;
Huang, Xueqiong;
Liang, Yujian;
Zhang, Lidan;
Huang, Huimin;
Zhang, Cheng;
Tang, Wen

Publication type:

Article

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Published in:

Journal of Neurology, 2014, v. 261, n. 1, p. 83, doi. 10.1007/s00415-013-7137-2

By:

Remiche, Gauthier;
Ronchi, Dario;
Magri, Francesca;
Lamperti, Costanza;
Bordoni, Andreina;
Moggio, Maurizio;
Bresolin, Nereo;
Comi, Giacomo

Publication type:

Article

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.

Published in:

Journal of Neurology, 2013, v. 260, n. 9, p. 2279, doi. 10.1007/s00415-013-6980-5

By:

Hundsberger, Thomas;
Rohrbach, Marianne;
Kern, Lukas;
Rösler, Kai

Publication type:

Article

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Published in:

Journal of Neurology, 2009, v. 256, n. 11, p. 1881, doi. 10.1007/s00415-009-5219-y

By:

Oba-Shinjo, Sueli M.;
da Silva, Roseli;
Andrade, Fernanda G.;
Palmer, Rachel E.;
Pomponio, Robert J.;
Ciociola, Kristina M.;
Carvalho, Mary S.;
Gutierrez, Paulo S.;
Porta, Gilda;
Marrone, Carlo D.;
Munoz, Verônica;
Grzesiuk, Anderson K.;
Llerena, Jr., Juan C.;
Berditchevsky, Célia R.;
Sobreira, Claudia;
Horovitz, Dafne;
Hatem, Thamine P.;
Frota, Elizabeth R. C.;
Pecchini, Rogerio;
Kouyoumdjian, João Aris

Publication type:

Article

Pompe disease, a storage cardiomyopathy.

Published in:

Cardiogenetics, 2017, v. 7, n. 1, p. 22, doi. 10.4081/cardiogenetics.2017.6857

By:

Felice, Tiziana

Publication type:

Article

Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 8, p. 493, doi. 10.1038/jhg.2009.66

By:

Maimaiti, Mireguli;
Takahashi, Satoru;
Okajima, Kazuki;
Suzuki, Nao;
Ohinata, Junko;
Araki, Akiko;
Tanaka, Hajime;
Mukai, Tokuo;
Fujieda, Kenji

Publication type:

Article

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Published in:

2020

By:

Galeotti, Angela;
De Rosa, Sara;
Uomo, Roberto;
Dionisi-Vici, Carlo;
Deodato, Federica;
Taurisano, Roberta;
Olivieri, Giorgia;
Festa, Paola

Publication type:

journal article

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid α-glucosidase in Caenorhabditis elegans.

Published in:

Molecular & Cellular Biochemistry, 2010, v. 341, n. 1/2, p. 51, doi. 10.1007/s11010-010-0436-3

By:

Sikora, Jakub;
Uřinovská, Jana;
Majer, Filip;
Poupětová, Helena;
Hlavatá, Jitka;
Kostrouchová, Marta;
Ledvinová, Jana;
Hřebíček, Martin

Publication type:

Article

Evidence for a Founder Effect in Sicilian Patients with Glycogen Storage Disease Type II.

Published in:

Human Heredity, 2000, v. 50, n. 6, p. 331, doi. 10.1159/000022938

By:

Dagnino, Fabio;
Stroppiano, Marina;
Regis, Stefano;
Bonuccelli, Gloria;
Filocamo, Mirella

Publication type:

Article

庞贝病神经系统损伤的研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 4, p. 420, doi. 10.7499/j.issn.1008-8830.2211052

By:

张文超;
毛莹莹;
综述;
陈倩;
审校

Publication type:

Article

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Published in:

2022

By:

Ismailova, G.;
Mackenbach, M. J.;
van den Hout, J. M. P.;
van der Ploeg, A. T.;
Brusse, E.;
Wagenmakers, M. A. E. M.

Publication type:

Letter

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

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

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

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.

Published in:

Gene Therapy, 2005, v. 12, n. 18, p. 1405, doi. 10.1038/sj.gt.3302550

By:

Mah, C.;
Cresawn, K. O.;
Fraites Jr., T. J.;
Pacak, C. A.;
Lewis, M. A.;
Zolotukhin, I.;
Byrne, B. J.

Publication type:

Article

Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

Published in:

Molecular Therapy, 2005, v. 11, n. 6, p. 889, doi. 10.1016/j.ymthe.2005.01.012

By:

Sun, Baodong;
Zhang, Haoyue;
Franco, Luis M.;
Brown, Talmage;
Bird, Andrew;
Schneider, Ayn;
Koeberl, Dwight D.

Publication type:

Article

Diagnóstico y tratamiento en la enfermedad de Pompe.

Published in:

Revista Medica del IMSS, 2013, v. 51, n. 5, p. 536

By:

Bravo-Oro, Antonio;
de la Fuente-Cortez, Beatriz;
Molina-García, Avril;
Romero-Díaz, Víktor;
Rodríguez-Leyva, Ildefonso;
Esmer-Sánchez, María del Carmen

Publication type:

Article

Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe.

Published in:

Acta Médica Portuguesa, 2014, v. 27, n. 4, p. 525, doi. 10.20344/amp.5275

By:

BRITO-AVÔ, Luis;
ALVES, José Delgado;
COSTA, João Matos;
VALVERDE, Ana;
SANTOS, Lélita;
ARAÚJO, Francisco;
AGUIAR, Patrício;
MARINHO, António;
OLIVEIRA, Anabela;
GOMES, Daniel

Publication type:

Article

A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

Published in:

Orphanet Journal of Rare Diseases, 2025, p. 1, doi. 10.1186/s13023-024-03425-1

By:

Laney, Dawn A.;
Banks, Kayla A.;
Botha, Eleanor G.;
Keever, Maria;
Long, Valynne;
Foley, Allison L.

Publication type:

Article