Cargando…

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

BACKGROUND: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Hua-Xu, Pu, Chuan-Qiang, Shi, Qiang, Zhang, Yu-Tong, Ban, Rui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830830/ https://www.ncbi.nlm.nih.gov/pubmed/29451150 http://dx.doi.org/10.4103/0366-6999.225056

Ejemplares similares

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China
por: Zhao, Hui-Hui, et al.
Publicado: (2021)

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease
por: Aung-Htut, May Thandar, et al.
Publicado: (2020)

From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease
por: Sánchez-Porras, Valentina, et al.
Publicado: (2023)

Hypothyroidism in late-onset Pompe disease
por: Schneider, Joseph, et al.
Publicado: (2016)

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease
por: van Kooten, Harmke A., et al.
Publicado: (2022)

Late-Onset Pompe Disease with Nemaline Bodies
por: Frezza, E., et al.
Publicado: (2018)

Late-onset Pompe disease manifests in the brain
por: Finsterer, Josef
Publicado: (2019)

Pregnancy Outcomes in Late Onset Pompe Disease
por: Goker-Alpan, Ozlem, et al.
Publicado: (2020)

Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report
por: Zhang, Bin, et al.
Publicado: (2016)

Fatigue: an important feature of late-onset Pompe disease
por: Hagemans, M. L. C., et al.
Publicado: (2007)

Bone density in patients with late onset Pompe disease
por: Papadimas, George, et al.
Publicado: (2012)

Response: Late-onset Pompe disease manifests in the brain
por: Schneider, Ilka, et al.
Publicado: (2019)

Is the brain involved in patients with late‐onset Pompe disease?
por: van den Dorpel, Jan J. A., et al.
Publicado: (2022)

Treatment Dilemma in Children with Late-Onset Pompe Disease
por: Faraguna, Martha Caterina, et al.
Publicado: (2023)

A Comprehensive Update on Late-Onset Pompe Disease
por: Labella, Beatrice, et al.
Publicado: (2023)

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
por: Fatehi, Farzad, et al.
Publicado: (2021)

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state
por: Matsuoka, Takashi, et al.
Publicado: (2016)

Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects
por: Colella, Pasqualina, et al.
Publicado: (2020)

S1.5 Role of the pulmonologist in the late-onset Pompe disease
por: Fiorentino, Giuseppe, et al.
Publicado: (2011)

Walking delay as leading symptom in late-onset Pompe disease
por: Gökce, S, et al.
Publicado: (2013)

Enzyme replacement therapy and antibodies in late-onset Pompe disease
por: Schneider, I., et al.
Publicado: (2014)

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()
por: Papadopoulos, C., et al.
Publicado: (2013)

Analysis of voice quality in patients with late-onset Pompe disease
por: Szklanny, Krzysztof, et al.
Publicado: (2016)

Bright tongue sign in patients with late-onset Pompe disease
por: Karam, Chafic, et al.
Publicado: (2019)

Dynamic respiratory muscle function in late-onset Pompe disease
por: Smith, Barbara K., et al.
Publicado: (2019)

COVID‐19 infection in patients with late‐onset Pompe disease
por: Avelar, Jennifer, et al.
Publicado: (2022)

Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement
por: Al-Hashel, Jasem, et al.
Publicado: (2022)

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts
por: Cardone, Monica, et al.
Publicado: (2008)

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots
por: Thuriot, Fanny, et al.
Publicado: (2021)

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient
por: Ban, Rui, et al.
Publicado: (2018)

Late‐onset Pompe disease with a novel mutation and a rare phenotype: A case report
por: Si, Xiaoli, et al.
Publicado: (2022)

Alglucosidase alfa: 5 years of experience in late-onset Pompe disease
por: Schoser, Benedikt
Publicado: (2013)

Quantitative analysis of upright standing in adults with late-onset Pompe disease
por: Valle, Maria Stella, et al.
Publicado: (2016)

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease
por: Wenninger, Stephan, et al.
Publicado: (2021)

Screening for late-onset Pompe disease in Internal Medicine departments in Spain
por: López-Rodríguez, Mónica, et al.
Publicado: (2023)

A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds
por: Seppälä, Eija H., et al.
Publicado: (2013)

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation
por: Liu, Xiao, et al.
Publicado: (2014)

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
por: Sheng, Bun, et al.
Publicado: (2017)

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease
por: Aung-Htut, May T., et al.
Publicado: (2020)

Mobility assessment using wearable technology in patients with late-onset Pompe disease
por: Hamed, Alaa, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4a9o0u3035s07kfebaj3fccgk1