Archives: Conditions A-Z
Multiple endocrine neoplasia type 1
Tumor syndrome of parathyroid, pancreatic islet and pituitary glands.
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Mucopolysaccharidosis type VI
Arylsulfatase B deficiency with skeletal dysplasia and organomegaly, intelligence usually preserved.
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Mucopolysaccharidosis type IVA
Keratan sulfate storage with severe skeletal dysplasia and preserved intelligence.
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Myelodysplastic syndromes
Clonal marrow disorders with ineffective hematopoiesis, cytopenias and leukemia risk.
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Multiple system atrophy
Progressive neurodegeneration with autonomic failure plus parkinsonism or cerebellar ataxia.
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Myotonic dystrophy
Multisystem dystrophy with myotonia, weakness, cataracts, cardiac conduction defects; commonest adult-onset MD.
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Narcolepsy with cataplexy
Chronic sleep disorder with excessive daytime sleepiness and cataplexy from orexin/hypocretin deficiency.
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Myotubular myopathy
Severe congenital myopathy with neonatal hypotonia and respiratory failure from myotubularin deficiency.
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