Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.
about
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIAutophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenRespiratory muscle and pulmonary function in polymyositis and other proximal myopathies.Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe diseaseImpaired performance of skeletal muscle in alpha-glucosidase knockout micePathological features of glycogen storage disease type II highlighted in the knockout mouse modelThe molecular background of glycogen metabolism disorders.Central sleep apnoea in congenital muscular dystrophy.Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.Animal models of glycogen storage conditions. Their relation to human disease.Pompe disease: from pathophysiology to therapy and back againRole of autophagy in the pathogenesis of Pompe disease.Pompe disease: literature review and case seriesAn isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training programA cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls.Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.Enzymatic and molecular strategies to diagnose Pompe disease.Muscle diseases: mimics and chameleons.Electromyographic findings in 37 patients with adult-onset acid maltase deficiency.Toward deconstructing the phenotype of late-onset Pompe disease.A 62-year-old man with dyspnea.Biochemical, immunological, and cell genetic studies in glycogenosis type II.Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.Localization of dystrophin and beta-spectrin in vacuolar myopathiesQuadriceps myopathy: a variant of the limb-girdle dystrophy syndrome.New mutations and genotype-phenotype correlation in late-onset Pompe patients.The use of leucocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease).Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies.Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
P2860
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P2860
Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.
description
1970 nî lūn-bûn
@nan
1970年の論文
@ja
1970年学术文章
@wuu
1970年学术文章
@zh-cn
1970年学术文章
@zh-hans
1970年学术文章
@zh-my
1970年学术文章
@zh-sg
1970年學術文章
@yue
1970年學術文章
@zh
1970年學術文章
@zh-hant
name
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@en
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@nl
type
label
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@en
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@nl
prefLabel
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@en
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@nl
P356
P1433
P1476
Acid maltase deficiency in adu ...... dystrophy or other myopathies.
@en
P2093
P304
P356
10.1093/BRAIN/93.3.599
P407
P577
1970-01-01T00:00:00Z