3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2012

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In the top 25% of all research outputs scored by Altmetric
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So far, Altmetric has seen 7 X posts from 6 X users, with an upper bound of 5,868 followers.

Genotype to phenotype is hard. Sorting out rare disease biology far more complex than just finding mutations. http://t.co/BPTrZu08

Sometimes nor #genotype nor biochemical #phenotype can predict which is at risk of developing clinical symptoms. http://t.co/uz3Hs733

Genotype to phenotype is hard. Sorting out rare disease biology far more complex than just finding mutations. http://t.co/BPTrZu08

Genotype to phenotype is hard. Sorting out rare disease biology far more complex than just finding mutations. http://t.co/BPTrZu08

Grote studie over 3-#methylcrotonylCoA carboxylase deficientie. Vandaag nog #diagnose gesteld in moeder van neonaatje. http://t.co/I67JyP49

Large study on 3-methylcrotonyl-CoA carboxylase deficiency: clinical + biochemical data. Highly variable #phenotype! http://t.co/XLILaz1x