Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Show other versions (1)

Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycoge...

Full description

Bibliographic Details
Main Authors:	Dominika Anna Janeczko, Anna Orzeł, Barbara Klatka, Magdalena Hołowczuk, Grzegorz Szlichta
Format:	Article
Language:	English
Published:	Kazimierz Wielki University 2019-09-01
Series:	Journal of Education, Health and Sport
Subjects:	pompe disease alglucosidade alpha chromosome 17 glycogen storage disease type ii
Online Access:	http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7491

Similar Items

Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland
by: Dominika Anna Janeczko, et al.
Published: (2019-09-01)

Reporting 7 Pompe Patients in Iran
by: Milad Ebrahimi, et al.
Published: (2017-05-01)

Late-Onset Pompe Disease: A Diagnostic Challenge
by: Ritesh Shah, et al.
Published: (2021-04-01)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
by: Lukana Ngiwsara, et al.
Published: (2019-09-01)

Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement
by: Jasem Al-Hashel, et al.
Published: (2022-03-01)

Infantile Pompe disease with intrauterine onset: a case report and literature review
by: Hongmin Xi, et al.
Published: (2022-11-01)

Hypoglossal neuropathology and respiratory activity in Pompe mice
by: Kun-Ze eLee, et al.
Published: (2011-06-01)

Induced pluripotent stem cell for modeling Pompe disease
by: Wenjun Huang, et al.
Published: (2022-12-01)

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
by: Yasaman Alizadeh, et al.
Published: (2024-03-01)

Health-Related Quality of Life and Fatigue in Children with Pompe Disease
by: Linda E. Scheffers, et al.
Published: (2024-12-01)

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
by: Stijn L.M. in ’t Groen, et al.
Published: (2020-06-01)

Pregnancy Outcomes in Late Onset Pompe Disease
by: Ozlem Goker-Alpan, et al.
Published: (2020-09-01)

Molecular basis and clinical management of Pompe disease
by: Giancarlo Parenti, et al.
Published: (2013-02-01)

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease
by: Lina Fiege, et al.
Published: (2023-08-01)

Pompe disease - What do we currently know about the disease?
by: Edyta Białowąs, et al.
Published: (2023-02-01)

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory
by: Jennifer T. Saville, et al.
Published: (2021-07-01)

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
by: Giancarlo Parenti, et al.
Published: (2024-11-01)

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
by: Anna Malekkou, et al.
Published: (2023-09-01)

Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge
by: Agata Konopka, et al.
Published: (2024-08-01)

Calf muscle hypertrophy in late onset pompe's disease
by: M Suraj Menon, et al.
Published: (2016-01-01)

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease
by: Barry J. Byrne, et al.
Published: (2024-10-01)

Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease
by: Barry J. Byrne, et al.
Published: (2025-01-01)

Novel Mutation in the Feline <i>GAA</i> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
by: Tofazzal Md Rakib, et al.
Published: (2023-04-01)

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
by: Yin-Hsiu Chien, et al.
Published: (2013-08-01)

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes
by: Nuria Gómez-Cebrián, et al.
Published: (2023-08-01)

Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction
by: Vaishali Kumbar, et al.
Published: (2016-01-01)

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy
by: Qiushi Liang, et al.
Published: (2022-12-01)

Aspectos respiratórios da doença de Pompe: Relato de caso Respiratory aspects of Pompe disease: Case report
by: Ewandro LR Moura, et al.
Published: (2008-02-01)

Skeletal muscle metabolism during prolonged exercise in Pompe disease
by: Nicolai Preisler, et al.
Published: (2017-07-01)

Characteristics of Pompe disease in China: a report from the Pompe registry
by: Yuying Zhao, et al.
Published: (2019-04-01)

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients
by: David Reyes-Leiva, et al.
Published: (2021-03-01)

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
by: Herzog Andreas, et al.
Published: (2012-06-01)

Failure of Autophagy in Pompe Disease
by: Hung Do, et al.
Published: (2024-05-01)

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
by: J. J. A. van den Dorpel, et al.
Published: (2020-09-01)

Newborn Screening for Pompe Disease: Pennsylvania Experience
by: Can Ficicioglu, et al.
Published: (2020-11-01)

Hypothyroidism in late-onset Pompe disease
by: Joseph Schneider, et al.
Published: (2016-09-01)

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
by: A. D. Dornelles, et al.
Published: (2024-02-01)

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
by: V. P. Fedotov, et al.
Published: (2015-02-01)

Pharmacological Chaperone Therapy for Pompe Disease
by: Marc Borie-Guichot, et al.
Published: (2021-11-01)

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
by: Reuser Arnold JJ, et al.
Published: (2011-06-01)