Cargando…

Genotypephenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

BACKGROUND: Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid -glucosidase gene (GAA) that produces defects in the lysosomal acid -1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to establish g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hernndez-Arvalo, Paula, Santotoribio, Jos D., Delarosa-Rodrguez, Roco, Gonzlez-Meneses, Antonio, Garca-Morillo, Salvador, Jimnez-Arriscado, Pilar, Guerrero, Juan M., Macher, Hada C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139113/ https://www.ncbi.nlm.nih.gov/pubmed/34020684 http://dx.doi.org/10.1186/s13023-021-01864-8

Ejemplares similares

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
por: Reuser, Arnold J. J., et al.
Publicado: (2019)

Broad variation in phenotypes for common GAA genotypes in Pompe disease
por: Niño, Monica Y., et al.
Publicado: (2021)

Self-evaluation and evaluation of nursing leaders Leadership Styles
por: Castillo, Angie Lorena Riao, et al.
Publicado: (2021)

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients
por: Ebrahimi, Milad, et al.
Publicado: (2017)

Immune Responses and Hypercoagulation in ERT for Pompe Disease Are Mutation and rhGAA Dose Dependent
por: Nayak, Sushrusha, et al.
Publicado: (2014)

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease
por: ESMER, CARMEN, et al.
Publicado: (2013)

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
por: Fukuhara, Yasuyuki, et al.
Publicado: (2017)

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease
por: Jia, Xiaodong, et al.
Publicado: (2020)

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
por: Gal, Aniko, et al.
Publicado: (2021)

Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity
por: Eggers, Michelle, et al.
Publicado: (2021)

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
por: van der Wal, Erik, et al.
Publicado: (2017)

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

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
por: Rakib, Tofazzal Md, et al.
Publicado: (2023)

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

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease
por: Hintze, Stefan, et al.
Publicado: (2020)

AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice
por: Doyle, Brendan M., et al.
Publicado: (2019)

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
por: van der Wal, Erik, et al.
Publicado: (2017)

Screening chimeric GAA variants in preclinical study results in hematopoietic stem cell gene therapy candidate vectors for Pompe disease
por: Dogan, Yildirim, et al.
Publicado: (2022)

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
por: Ditters, Imke A. M., et al.
Publicado: (2023)

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
por: Chan, Mei-Yan, et al.
Publicado: (2023)

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
por: Kan, Shih-hsin, et al.
Publicado: (2022)

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

Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies
por: Aguilar-González, Araceli, et al.
Publicado: (2022)

Pompes turbomoleculaires
por: Versolatto, B
Publicado: (1982)

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
por: Herzog, Andreas, et al.
Publicado: (2012)

(13)C/(31)P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease
por: Baligand, Celine, et al.
Publicado: (2017)

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
por: Cerón‐Rodríguez, Magdalena, et al.
Publicado: (2022)

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
por: Goomber, Shelly, et al.
Publicado: (2022)

Different healthy habits between northern and southern Spanish school children
por: Arriscado, Daniel, et al.
Publicado: (2017)

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)

Characteristics of Pompe disease in China: a report from the Pompe registry
por: Zhao, Yuying, et al.
Publicado: (2019)

Identification of serum microRNAs as potential biomarkers in Pompe disease
por: Carrasco‐Rozas, Ana, et al.
Publicado: (2019)

Raccords de pompes
por: Riboni, P
Publicado: (1976)

Pregnancy in Pompe disease
por: Plöckinger, Ursula
Publicado: (2013)

Familial Pompe Disease
por: Tecellioglu, Mehmet, et al.
Publicado: (2015)

Annual GaAs Integrated Circuits Symposium : GaAs IC
por: Madihian, M, et al.
Publicado: (1996)

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population
por: Byrne, B, et al.
Publicado: (2008)

Consensus of the Spanish society of laboratory medicine and the Spanish society of medical oncology on the methodology and criteria for evaluation of circulating tumour markers in breast cancer
por: Ayala de la Peña, F., et al.
Publicado: (2021)

GaAs detectors
por: Beaumont, S P, et al.
Publicado: (1990)

Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
por: Christensen, Chloe, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_a48rgn5ppvn3in1a3jh7gr1sj3