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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, potentially mild mutations like c.199T>C are frequently found in screening cohorts. There is ongoing...
שמור ב:
| הוצא לאור ב: | JIMD Rep |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer Berlin Heidelberg
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4484909/ https://ncbi.nlm.nih.gov/pubmed/25940036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_439 |
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