| P50 | author | Junmin Fang-Hoffmann | Q51732919 |
| P2093 | author name string | Martin Lindner | |
| | Georg F Hoffmann | |
| | Claus R Bartram | |
| | Peter Burgard | |
| | Katrin Hinderhofer | |
| | Gisela Haege | |
| | Gwendolyn Gramer | |
| | Junmin Fang-Hoffmann | |
| P2860 | cites work | Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants | Q21134055 |
| | Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany | Q21202867 |
| | Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res | Q28364785 |
| | A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns | Q33489532 |
| | An evaluation of R2 as an inadequate measure for nonlinear models in pharmacological and biochemical research: a Monte Carlo approach | Q33596726 |
| | Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications | Q34201641 |
| | Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency | Q34329301 |
| | Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency | Q35204534 |
| | The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. | Q36450404 |
| | Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective | Q36501339 |
| | Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening | Q37767907 |
| | Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies | Q42276915 |
| | Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing | Q43077747 |
| | Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency. | Q43088391 |
| | Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. | Q43271416 |
| | Dextrose gel for neonatal hypoglycaemia (the Sugar Babies Study): a randomised, double-blind, placebo-controlled trial | Q43538684 |
| | Molecular and functional characterisation of mild MCAD deficiency | Q43642909 |
| | The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. | Q45102928 |
| | Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening | Q46616431 |
| | Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations | Q46807451 |
| | Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency | Q48142317 |
| | Late presentation of medium-chain acyl-CoA dehydrogenase deficiency | Q48348660 |
| | Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening | Q48551995 |
| | Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. | Q51819165 |
| | The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. | Q51974721 |
| | Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. | Q52217978 |
| | The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? | Q54566895 |
| | The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. | Q55042026 |
| | Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. | Q55042915 |
| | Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene | Q61763896 |
| | Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis | Q69579716 |
| | Common MCAD mutation in a healthy parent of two affected siblings | Q70994563 |
| P921 | main subject | medium chain acyl-CoA dehydrogenase deficiency | Q750826 |
| | phenotype | Q104053 |
| | genotype-phenotype correlation | Q108687160 |
| P304 | page(s) | 101-112 | |
| P577 | publication date | 2015-05-05 | |
| P1433 | published in | Journal of Inherited Metabolic Disorders Reports | Q27724122 |
| P1476 | title | Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening | |
| P478 | volume | 23 | |