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2012 | 1 |
2022 | 1 |
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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.
Orphanet J Rare Dis. 2012.
PMID: 22642865
Free PMC article.
However, neither the genotype nor the biochemical phenotype is helpful in predicting the clinical course....
However, neither the genotype nor the biochemical phenotype is helpful in predicting the clinical course....
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ, Kim SY, Lee JS, Kang S, Park LJ, Choi W, Jung JY, Kim T, Park SS, Ko JM, Seong MW, Chae JH.
Kim MJ, et al.
Ann Lab Med. 2023 May 1;43(3):280-289. doi: 10.3343/alm.2023.43.3.280. Epub 2022 Dec 22.
Ann Lab Med. 2023.
PMID: 36544340
Free PMC article.
Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. ...
Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multip …
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