Polyglucosan body disease myopathy: An unusual presentation
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[1] R. Parvari,et al. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. , 2002, Current molecular medicine.
[2] D. Royall,et al. The FAB: A frontal assessment battery at bedside , 2001, Neurology.
[3] J. Malin,et al. Novel missense mutations in the glycogen‐branching enzyme gene in adult polyglucosan body disease , 2000, Annals of neurology.
[4] S. Dimauro,et al. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy , 1999, Neuromuscular Disorders.
[5] Z. Meiner,et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen‐branching enzyme gene , 1998, Annals of neurology.
[6] H. Goebel,et al. A mild adult myopathic variant of type iv glycogenosis , 1996, Neuromuscular Disorders.
[7] Yuan-Tsong Chen,et al. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. , 1996, The Journal of clinical investigation.
[8] S. Dimauro,et al. Adult acid maltase deficiency , 1993, Muscle & nerve.
[9] S. Dimauro,et al. Polyglucosan body disease simulating amyotrophic lateral sclerosis , 1993, Neurology.
[10] S. Dimauro,et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease , 1993, Annals of neurology.
[11] P. Tonin,et al. Polyglucosan body myopathy: A new case , 1992, Neuromuscular Disorders.
[12] A. Schulz,et al. Adult Polyglucosan Body Myopathy , 1992, Journal of neuropathology and experimental neurology.
[13] G. Serratrice,et al. [Polysaccharide amylopectin-type storage myopathy]. , 1992, Revue neurologique.
[14] M. Gomori,et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients , 1991, Annals of neurology.
[15] M. Roig,et al. Skin biopsy findings in glycogenosis III: Clinical, biochemical, and electrophysiological correlations , 1990, Annals of neurology.
[16] J. Weis,et al. Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. , 1988, Clinical neuropathology.
[17] H. Svaar,et al. Myopathy with tremor and dementia: a metabolic disorder? Case report with postmortem study. , 1974, Journal of the neurological sciences.