Works matching DE "GLYCOGEN storage disease type II"

Results: 956

Late‐onset Pompe's disease in a hemodialysis patient: A first case report.

Published in:

2018

By:

Eleftheriadis, Theodoros;
Makri, Panagiota;
Karakosta, Paschalia;
Pissas, Georgios;
Liakopoulos, Vassilios;
Michelakakis, Helen;
Hadjigeorgiou, Georgios M.;
Stefanidis, Ioannis

Publication type:

Case Study

ISSUE INFORMATION.

Published in:: Hemodialysis International, 2018, v. 22, n. 2, p. 141, doi. 10.1111/hdi.12611
Publication type:: Article

Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson's Disease Research.

Published in:

Journal of Parkinson's Disease, 2024, v. 14, n. 1, p. 65, doi. 10.3233/JPD-230295

By:

Jong, Tiffany;
Gehrlein, Alexandra;
Sidransky, Ellen;
Jagasia, Ravi;
Chen, Yu

Publication type:

Article

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Published in:

Journal of Parkinson's Disease, 2021, v. 11, n. 4, p. 1845, doi. 10.3233/JPD-212658

By:

Chen, Yong-Ping;
Gu, Xiao-Jing;
Song, Wei;
Hou, Yan-Bing;
Ou, Ru-Wei;
Zhang, Ling-Yu;
Liu, Kun-Cheng;
Su, Wei-Ming;
Cao, Bei;
Wei, Qian-Qian;
Zhao, Bi;
Wu, Ying;
Shang, Hui-Fang

Publication type:

Article

Fake it till you make it? AI hallucinations and ethical dilemmas in Anesthesia research and practice.

Published in:

2025

By:

Ashwin, M;
Jha, Sukriti;
Prasad, Ganga;
Kumar, Subodh

Publication type:

Editorial

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region.

Published in:

Kufa Medical Journal, 2025, v. 21, n. 1, p. 39, doi. 10.36330/kmj.v21i1.1629

By:

Mohammed, Lana Ahmed

Publication type:

Article

Case report: Pompe disease.

Published in:

Acta Cardiologica, 2025, v. 80, n. 4, p. 418, doi. 10.1080/00015385.2025.2476886

By:

Hu, Shuyi;
Yan, Hua;
Long, Yanli;
Zhu, Handong

Publication type:

Article

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 488, doi. 10.1007/s00335-025-10121-3

By:

Marcó, Sara;
Muñoz, Sergio;
Bosch, Fatima;
Jimenez, Veronica

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

John Crowley Relives His Extraordinary Measures to Combat Pompe Disease.

Published in:

2010

By:

DAVIES, KEVIN

Publication type:

Proceeding

The role of genetic testing in diagnosing Fabry's disease and its overlapping with cardiomyopathies: a case series.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 8, p. 1, doi. 10.1093/ehjcr/ytae375

By:

Suppah, Mustafa;
Narayanasamy, Hema;
Nelson, James;
Alsidawi, Said

Publication type:

Article

Ophthalmological Findings in Mucopolysaccharidoses.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1467, doi. 10.3390/jcm8091467

By:

Tomatsu, Shizuka;
Pitz, Susanne;
Hampel, Ulrike

Publication type:

Article

Lysosomal Acid Lipase as a Molecular Target of the Very Low Carbohydrate Ketogenic Diet in Morbidly Obese Patients: The Potential Effects on Liver Steatosis and Cardiovascular Risk Factors.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 621, doi. 10.3390/jcm8050621

By:

Ministrini, Stefano;
Calzini, Lucia;
Nulli Migliola, Elisa;
Ricci, Maria Anastasia;
Roscini, Anna Rita;
Siepi, Donatella;
Tozzi, Giulia;
Daviddi, Giulia;
Martorelli, Eva-Edvige;
Paganelli, Maria Teresa;
Lupattelli, Graziana

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

A challenging etiology of myopathy: The late-onset Pompe disease.

Published in:

European Journal of Rheumatology, 2023, v. 10, n. 1, p. 26, doi. 10.5152/eurjrheum.2022.21156

By:

İnel, Tuba Yüce;
Avşar, Aydan Köken;
Kısa, Pelin Teke;
Özer, Erdener;
Sarı, İsmail

Publication type:

Article

Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 207, doi. 10.1002/acn3.51947

By:

Godbole, Neha P.;
Haxton, Elizabeth;
Rowe, Olivia E.;
Locascio, Joseph J.;
Schmahmann, Jeremy D.;
Eichler, Florian S.;
Ratai, Eva‐Maria;
Stephen, Christopher D.

Publication type:

Article

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1662, doi. 10.1002/acn3.51856

By:

Mizutani, Yasuaki;
Nawashiro, Kazuki;
Ohdake, Reiko;
Tatebe, Harutsugu;
Shima, Sayuri;
Ueda, Akihiro;
Yoshimoto, Junichiro;
Ito, Mizuki;
Tokuda, Takahiko;
Mutoh, Tatsuro;
Watanabe, Hirohisa

Publication type:

Article

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1146, doi. 10.1002/acn3.51796

By:

Al‐Saady, Murtadha;
Beerepoot, Shanice;
Plug, Bonnie C.;
Breur, Marjolein;
Galabova, Hristina;
Pouwels, Petra J. W.;
Boelens, Jaap‐Jan;
Lindemans, Caroline;
van Hasselt, Peter M.;
Matzner, Ulrich;
Vanderver, Adeline;
Bugiani, Marianna;
van der Knaap, Marjo S.;
Wolf, Nicole I.

Publication type:

Article

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1999, doi. 10.1002/acn3.51692

By:

Schoenmakers, Daphne H.;
Beerepoot, Shanice;
Krägeloh‐Mann, Ingeborg;
Elgün, Saskia;
Bender, Benjamin;
van der Knaap, Marjo S.;
Wolf, Nicole I.;
Groeschel, Samuel

Publication type:

Article

Erratum.

Published in:: 2022
Publication type:: Correction Notice

Neurofilament light is a treatment‐responsive biomarker in CLN2 disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2437, doi. 10.1002/acn3.50942

By:

Ru, Yuanbin;
Corado, Carley;
Soon, Russell K.;
Melton, Andrew C.;
Harris, Adam;
Yu, Guoying K.;
Pryer, Nancy;
Sinclair, John R.;
Katz, Martin L.;
Ajayi, Temitayo;
Jacoby, David;
Russell, Chris B.;
Chandriani, Sanjay

Publication type:

Article

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1214, doi. 10.1002/acn3.50800

By:

Carrasco‐Rozas, Ana;
Fernández‐Simón, Esther;
Lleixà, Maria Cinta;
Belmonte, Izaskun;
Pedrosa-Hernandez, Irene;
Montiel-Morillo, Elena;
Nuñez‐Peralta, Claudia;
Llauger Rossello, Jaume;
Segovia, Sonia;
De Luna, Noemí;
Suarez‐Calvet, Xavier;
Illa, Isabel;
Díaz‐Manera, Jordi;
Gallardo, Eduard;
Barba‐Romero, Miguel Angel;
Barcena, Joseba;
Carzorla, María Rosario;
Creus, Carlota;
Coll‐Cantí, Jaume;
Díaz, Manuel

Publication type:

Article

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 12, p. 1574, doi. 10.1002/acn3.649

By:

Nallamilli, Babi Ramesh Reddy;
Chakravorty, Samya;
Kesari, Akanchha;
Tanner, Alice;
Ankala, Arunkanth;
Schneider, Thomas;
da Silva, Cristina;
Beadling, Randall;
Alexander, John J.;
Askree, Syed Hussain;
Whitt, Zachary;
Bean, Lora;
Collins, Christin;
Khadilkar, Satish;
Gaitonde, Pradnya;
Dastur, Rashna;
Wicklund, Matthew;
Mozaffar, Tahseen;
Harms, Matthew;
Rufibach, Laura

Publication type:

Article

Cathepsin L interacts with CDK2-AP1 as a potential predictor of prognosis in patients with breast cancer.

Published in:

Oncology Letters, 2020, v. 19, n. 1, p. 167, doi. 10.3892/ol.2019.11067

By:

Wang, Zhan;
Xiang, Zhen;
Zhu, Ting;
Chen, Juan;
Zhong, Mei-Zuo;
Huang, Juan;
Wang, Kuan-Song;
Li, Ling;
Sun, Lun-Quan;
Zhou, Wei-Bing

Publication type:

Article

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly.

Published in:

Pediatric Allergy & Immunology, 2022, v. 33, n. 4, p. 1, doi. 10.1111/pai.13774

By:

Bogaert, Delfien;
De Bruyne, Ruth;
Vanlander, Arnaud V.;
Garabedian, Lara;
Louis, Yves;
Haerynck, Filomeen;
Bordon, Victoria;
De Moerloose, Barbara

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

Production of Human Acid-Alpha Glucosidase With a Paucimannose Structure by Glycoengineered Arabidopsis Cell Culture.

Published in:

Frontiers in Plant Science, 2021, v. 12, p. 1, doi. 10.3389/fpls.2021.703020

By:

Sariyatun, Ratna;
Florence;
Kajiura, Hiroyuki;
Ohashi, Takao;
Misaki, Ryo;
Fujiyama, Kazuhito

Publication type:

Article

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.

Published in:

Clinical Kidney Journal, 2022, v. 15, n. 9, p. 1675, doi. 10.1093/ckj/sfac099

By:

Levtchenko, Elena;
Servais, Aude;
Hulton, Sally A;
Ariceta, Gema;
Emma, Francesco;
Game, David S;
Lange, Karin;
Lapatto, Risto;
Liang, Hong;
Sberro-Soussan, Rebecca;
Topaloglu, Rezan;
Das, Anibh M;
Webb, Nicholas J A;
Wanner, Christoph

Publication type:

Article

Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era.

Published in:

Clinical Kidney Journal, 2022, v. 15, p. i33, doi. 10.1093/ckj/sfab203

By:

Soliman, Neveen A;
Mabrouk, Sameh

Publication type:

Article

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

Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl.

Published in:

2024

By:

Mitala, Yekosani;
Birungi, Abraham;
Mushabe, Branchard;
Manzi, John;
Ssenkumba, Brian;
Atwine, Raymond;
Ankunda, Siyadora

Publication type:

Case Study

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

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Published in:

2007

By:

Hoeksma, Marieke;
Boon, Maartje;
Niezen-Koning, Klary E.;
Van Overbeek-Van Gils, Lidy;
Van Spronsen, Francjan J.

Publication type:

journal 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

The role of sleep in neuromuscular disorders.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1195302

By:

Angelini, Corrado I.;
Ansevin, Carl;
Siciliano, Gabriele

Publication type:

Article

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1095134

By:

Ozdamar, Sevim Erdem;
Koc, Ayse Filiz;
Tekce, Hacer Durmus;
Kotan, Dilcan;
Ekmekci, Ahmet Hakan;
Sengun, Ihsan Sukru;
Yuceyar, Ayse Nur;
Uluc, Kayihan

Publication type:

Article

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1108222

By:

Lin, Simon;
Nateqi, Jama;
Weingartner-Ortner, Rafael;
Gruarin, Stefanie;
Marling, Hannes;
Pilgram, Vinzenz;
Lagler, Florian B.;
Aigner, Elmar;
Martin, Alistair G.

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

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Published in:

Genes, 2023, v. 14, n. 5, p. 954, doi. 10.3390/genes14050954

By:

Urtizberea, Jon Andoni;
Severa, Gianmarco;
Malfatti, Edoardo

Publication type:

Article

Treatment Dilemma in Children with Late-Onset Pompe Disease.

Published in:

Genes, 2023, v. 14, n. 2, p. 362, doi. 10.3390/genes14020362

By:

Faraguna, Martha Caterina;
Crescitelli, Viola;
Fornari, Anna;
Barzaghi, Silvia;
Savasta, Salvatore;
Foiadelli, Thomas;
Veraldi, Daniele;
Paoletti, Matteo;
Pichiecchio, Anna;
Gasperini, Serena

Publication type:

Article

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Published in:

Genes, 2020, v. 11, n. 2, p. 135, doi. 10.3390/genes11020135

By:

Aung-Htut, May T.;
Ham, Kristin A.;
Tchan, Michel C.;
Fletcher, Sue;
Wilton, Steve D.

Publication type:

Article

ATP13A2 protects dopaminergic neurons in Parkinson's disease: from biology to pathology.

Published in:

Journal of Biomedical Research, 2022, v. 36, n. 2, p. 98, doi. 10.7555/JBR.36.20220001

By:

Tao Dang;
Wen-Jing Cao;
Rong Zhao;
Ming Lu;
Gang Hu;
Chen Qiao

Publication type:

Article

Idiopathic Acroosteolysis: A Novel Cutaneous Sign Can Help Identify the Condition Early.

Published in:

2023

By:

Shrestha, Samir;
Regmi, Bashant;
Pathak, Raksha;
Kroumpouzos, George

Publication type:

Case Study

Infantile-onset pompe disease: a tale of two cases.

Published in:

2020

By:

Tolani, Drishti;
Bansal, Neha;
Sehgal, Swati

Publication type:

journal article

Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease.

Published in:

2019

By:

Yeşilbaş, Osman;
Epçaçan, Serdar

Publication type:

journal article

Resolution of severe cardiomyopathy in infantile Pompe disease.

Published in:

2015

By:

Parent, John J.;
Schamberger, Marcus

Publication type:

journal article

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34

By:

Kroos, Marian A;
Mullaart, Reinier A;
Van Vliet, Laura;
Pomponio, Robert J;
Amartino, Hernan;
Kolodny, Edwin H;
Pastores, Gregory M;
Wevers, Ron A;
Van der Ploeg, Ans T;
Halley, Dicky J J;
Reuser, Arnold J J

Publication type:

Article

Spontaneous Hydromyelic Cavity in Two Unrelated Patients with Late-Onset Pompe Disease: Is This a Fortuitous Association?

Published in:

European Neurology, 2013, v. 70, n. 1/2, p. 102, doi. 10.1159/000350851

By:

Remiche, Gauthier;
Ronchi, Dario;
Lamperti, Costanza;
Bordoni, andreina;
Magri, Francesca;
Moggio, Maurizio;
Comi, Giacomo P.

Publication type:

Article

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition.

Published in:

European Neurology, 2012, v. 68, n. 2, p. 75, doi. 10.1159/000338776

By:

Remiche, Gauthier;
Herbaut, Anne-Geneviève;
Ronchi, Dario;
Lamperti, Costanza;
Magri, Francesca;
Moggio, Maurizio;
Bresolin, Nereo;
Comi, Giacomo P.

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