| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/S0140-6736(07)60029-4 |
| P698 | PubMed publication ID | 17208640 |
| P2093 | author name string | Bridget Wilcken | |
| Marion Haas | |||
| Avihu Boneh | |||
| Veronica Wiley | |||
| Jim McGill | |||
| Pamela Joy | |||
| Carly Black | |||
| Janice Fletcher | |||
| Meredyth Chaplin | |||
| P2860 | cites work | Medium chain acyl-CoA dehydrogenase deficiency | Q24678149 |
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| P433 | issue | 9555 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Australia | Q408 |
| medium chain acyl-CoA dehydrogenase deficiency | Q750826 | ||
| P304 | page(s) | 37-42 | |
| P577 | publication date | 2007-01-01 | |
| P1433 | published in | The Lancet | Q939416 |
| P1476 | title | Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. | |
| P478 | volume | 369 |
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| Q34297808 | Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France |
| Q37787094 | Current issues regarding treatment of mitochondrial fatty acid oxidation disorders |
| Q35799904 | Decision analysis, economic evaluation, and newborn screening: challenges and opportunities |
| Q98465959 | Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience |
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| Q43207074 | Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State |
| Q39366361 | Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life |
| Q38774706 | Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease |
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| Q35795433 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening |
| Q51330620 | Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. |
| Q35724819 | Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening |
| Q49927469 | Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening |
| Q34699756 | Metabolic fingerprinting as a diagnostic tool. |
| Q28085600 | Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies |
| Q37744748 | Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening |
| Q49111246 | Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome |
| Q34065034 | Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening |
| Q94026272 | Newborn Screening for inherited metabolic disorders; news and views |
| Q44042375 | Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome |
| Q51997515 | Newborn screening for inherited metabolic disease. |
| Q35626478 | Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies |
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| Q82770065 | Propionic acidemia: neonatal versus selective metabolic screening |
| Q24312099 | Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening |
| Q36753404 | Recent advances in newborn screening |
| Q36894752 | Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
| Q41869905 | Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain). |
| Q83213679 | Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? |
| Q34282546 | Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study |
| Q37767907 | Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening |
| Q41590945 | The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group |
| Q37015264 | The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience. |
| Q37763612 | The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population |
| Q37109281 | The consequences of extended newborn screening programmes: do we know who needs treatment? |
| Q33749006 | The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario |
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| Q39743972 | Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians |
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