Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: Prevalence, predictive value and test validity based on 1.5 million screened babies

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

(2010) Shelley Kennedy et al.   BMC Pediatrics

Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

(2010) J. M. Khalid et al.   CLINICAL CHEMISTRY

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

(2010) Martin Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fatty acid oxidation disorders: outcome and long-term prognosis

(2010) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5years of ACADM sequencing

(2010) Emily H. Smith et al.   MOLECULAR GENETICS AND METABOLISM

Validation of MCADD newborn screening

(2009) EM Maier et al.   CLINICAL GENETICS

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

(2009) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

(2008) Gustavo H.B. Maegawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A > G mutation in the New York state population

(2008) Matthew J. Nichols et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Newborn screening for medium chain acyl CoA dehydrogenase deficiency

(2008) J V Leonard et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

(2008) T. G. J. Derks et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening

(2008) M. Downing et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The consequences of extended newborn screening programmes: Do we know who needs treatment?

(2008) B. Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation defects—remaining challenges

(2008) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

(2008) J M Khalid et al.   JOURNAL OF MEDICAL SCREENING

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

(2008) H.-W. Hsu et al.   PEDIATRICS