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RSS FeedsProteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report (BMC Medical Genetics)

 
 

22 september 2020 01:38:57

 
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report (BMC Medical Genetics)
 


Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon...


 
324 viewsCategory: Genetics, Medicine
 
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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report (BMC Medical Genetics)
 
 
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