Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

(2012) Natalie M. Gallant et al.   MOLECULAR GENETICS AND METABOLISM

The adult galactosemic phenotype

(2011) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population

(2010) Ulrich A. Schatz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

(2010) Jolanta Sykut-Cegielska et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expanded newborn screening: reducing harm, assessing benefit

(2010) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

(2010) Ute Spiekerkoetter   JOURNAL OF INHERITED METABOLIC DISEASE

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

(2010) Roman Yusupov et al.   MOLECULAR GENETICS AND METABOLISM

Delayed language development due to infantile thiamine deficiency

(2009) AVIVA FATTAL-VALEVSKI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

(2009) U. Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic☆

(2009) S. Waisbren 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

Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome

(2008) Pamela Joy et al.   CHILD NEUROPSYCHOLOGY

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

(2008) S.E. Waisbren et al.   MOLECULAR GENETICS AND METABOLISM

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

(2008) H.-W. Hsu et al.   PEDIATRICS