scholarly article | Q13442814 |
P50 | author | Brage Storstein Andresen | Q30505810 |
Peter Bross | Q50544010 | ||
Simon Olpin | Q57498100 | ||
P2093 | author name string | Niels Gregersen | |
Paul C Engel | |||
Thomas J Corydon | |||
John M Kenney | |||
Dianne M Frazier | |||
Shawn E McCandless | |||
Jakob Hansen | |||
Linda O'Reilly | |||
Vibeke Winter | |||
P2860 | cites work | Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells | Q41598951 |
Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. | Q54649637 | ||
P433 | issue | 20 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 4053-4063 | |
P577 | publication date | 2004-10-01 | |
P1433 | published in | FEBS Journal | Q1388041 |
P1476 | title | The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive | |
P478 | volume | 271 |
Q34258362 | A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report |
Q35638842 | Acyl-CoA Dehydrogenase Drives Heat Adaptation by Sequestering Fatty Acids |
Q30363996 | Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. |
Q24318620 | Interactions of the acidic domain and SRF interacting motifs with the NKX3.1 homeodomain |
Q46632207 | MCAD deficiency in Denmark. |
Q35795433 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening |
Q46807451 | Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations |
Q46330583 | Mitochondrial fatty acid oxidation defects--remaining challenges. |
Q24312099 | Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening |
Q41869905 | Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain). |
Q34282546 | Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study |
Q51322391 | Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. |
Q35144068 | The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase |
Q83120524 | The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005 |
Q54479997 | Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein. |
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