Adult-onset acid maltase deficiency: a postmortem study.
about
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIRespiratory muscle and pulmonary function in polymyositis and other proximal myopathies.Adult onset acid maltase deficiency associated with epilepsy and dementia: a case report.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.Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturationQuantitative analysis of upright standing in adults with late-onset Pompe disease.Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.Changes in nervous tissue in bovine generalized glycogenosis type II.
P2860
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P2860
Adult-onset acid maltase deficiency: a postmortem study.
description
1978 nî lūn-bûn
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1978年の論文
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1978年学术文章
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1978年学术文章
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1978年学术文章
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1978年学术文章
@zh-my
1978年学术文章
@zh-sg
1978年學術文章
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1978年學術文章
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1978年學術文章
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name
Adult-onset acid maltase deficiency: a postmortem study.
@en
type
label
Adult-onset acid maltase deficiency: a postmortem study.
@en
prefLabel
Adult-onset acid maltase deficiency: a postmortem study.
@en
P2093
P2860
P356
P1433
P1476
Adult-onset acid maltase deficiency: a postmortem study.
@en
P2093
P2860
P356
10.1002/MUS.880010105
P577
1978-01-01T00:00:00Z