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.
about
The Genetic Challenges and Opportunities in Advanced Heart FailureLate-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.Pompe disease: from pathophysiology to therapy and back againPompe disease: literature review and case seriesClinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.A conceptual disease model for adult Pompe disease.Therapeutic advances in the management of Pompe disease and other metabolic myopathiesFunctional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.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.Hereditary myopathies with early respiratory insufficiency in adults.Late-onset pompe disease in Iran: A clinical and genetic report.c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.Enzyme enhancers for the treatment of Fabry and Pompe disease.A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.Pompe disease in Austria: clinical, genetic and epidemiological aspects.Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
P2860
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P2860
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.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
A cross-sectional single-centr ...... notype-phenotype correlations.
@ast
A cross-sectional single-centr ...... notype-phenotype correlations.
@en
type
label
A cross-sectional single-centr ...... notype-phenotype correlations.
@ast
A cross-sectional single-centr ...... notype-phenotype correlations.
@en
prefLabel
A cross-sectional single-centr ...... notype-phenotype correlations.
@ast
A cross-sectional single-centr ...... notype-phenotype correlations.
@en
P2093
P2860
P356
P1476
A cross-sectional single-centr ...... notype-phenotype correlations.
@en
P2093
Andreas Herzog
Arnold J J Reuser
Christina Lampe
Christoph Kampmann
Heiko Runz
Joachim Pohlenz
Michael Beck
Nesrin Karabul
Pia Hermanns
Ralf Hartung
P2860
P2888
P356
10.1186/1750-1172-7-35
P50
P577
2012-06-07T00:00:00Z
P5875
P6179
1020538912