CDG Therapies: From Bench to Bedside.

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Annotation Summary

Term Occurence Count Dictionary
hydroxychloroquine 1 endocrinologydiseasesdrugs
hypoglycemia 3 endocrinologydiseases
metformin 1 endocrinologydiseasesdrugs
sialuria 1 endocrinologydiseases
calcinosis 1 endocrinologydiseases

Graph of close proximity drug and disease terms (within 200 characters).

Note: If this graph is empty, then there are no terms that meet the proximity constraint.

Review

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Select Drug Character Offset Drug Term Instance
hydroxychloroquine 54549 repositioning, since it has been used in the prophylaxis and treatment of acute mountain sickness [[275]], hydroxychloroquine retinopathy [[276]], hyperphosphatemic familial tumoral calcinosis [[277]] and also in the treatment
metformin 15844 presence of alternative transport systems cannot be excluded. Interestingly, it has been reported that metformin can induce and increase Man uptake by PMM2-deficient cells, by the activation of a Man-selective transport
Select Disease Character Offset Disease Term Instance
calcinosis 54624 mountain sickness [[275]], hydroxychloroquine retinopathy [[276]], hyperphosphatemic familial tumoral calcinosis [[277]] and also in the treatment of disorders associated with ataxia [[278]]. Now it is being evaluated
hypoglycemia 12429 and clinical improvement has been registered in treated MPI-CDG patients, including disappearance of hypoglycemia and gastrointestinal manifestations, normalization of coagulation, improvement of transferrin glycosylation
hypoglycemia 21328 its combination with uridine [[209],[210]]. Exercise intolerance with episodes of rhabdomyolysis and hypoglycemia has also been associated with PGM1 deficiency and Gal and glucose administration has improved exercise
hypoglycemia 25352 anti-epileptic effect [[218]]. One should keep in mind that a ketogenic diet may aggravate/potentiate hypoglycemia in these patients [[15]].PIGM-CDGPIGM-CDG (MIM: 610293) results from mutations in the promoter region
sialuria 67329 glycoprotein-linked sialic acid content (HIBM) whereas R-236L and R266Q produce higher amounts than WT ( sialuria ).[[19],[26],[28],[107],[108]]HEK293 cell line(a) D176V-Gne mutant(b) V572L-Gne mutant(c) Gne knockdown

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