Glicogenosi di tipo 1

Progress and problems in muscle glycogenoses

glicogenosi di tipo 1

La ricerca sulla malattia di Pompe

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Pertanto, il glicogeno non viene prodotto correttamente e le molecole di glicogeno anormali si accumulano nelle cellule ; in particolare in quelle cardiache e muscolari. Colpisce 1 individuo su Le manifestazioni cliniche sono: epatomegalia , cirrosi con ipertensione portale , ipotonia muscolare e morte nei primi anni di vita. Prende il nome dal medico statunitense Dorothy Hansine Andersen. Altri progetti.

Skip to search form Skip to main content. Massive glucosuria, partial resistance to glucagon and abnormal responses to carbohydrate loads, mainly in the form of major impairment of galactose utilization were found, as reported in previous cases. Increased blood lactate to pyruvate ratios, observed in a few cases of idiopathic Fanconi syndrome, were not present. View on Nature. Save to Library. Create Alert. Share This Paper.

In this selective review, we consider a number of unsolved questions regarding the glycogen storage diseases GSD. Thus, the pathogenesis of Pompe disease GSD II is not simply explained by excessive intralysosomal glycogen storage and may relate to a more general dysfunction of autophagy. It is not clear why debrancher deficiency GSD III causes fixed myopathy rather than exercise intolerance, unless this is due to the frequent accompanying neuropathy. The infantile neuromuscular presentation of branching enzyme deficiency GSD IV is underdiagnosed and is finally getting the attention it deserves. We still do not understand the clinical heterogeneity of McArdle disease GSD V or the molecular basis of the rare fatal infantile form. We observed an interesting association between phosphoglycerate kinase deficiency GSD IX and juvenile Parkinsonism, which is probably causal rather than casual.



Malattia da deposito di glicogeno, tipo 4

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Malattia di von Gierke

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Fanconi-Bickel syndrome

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La malattia da deposito di glicogeno, tipo 4, nota anche come malattia di Andersen, e una forma di glicogenosi, un gruppo di malattie riguardanti l' accumulo del.
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