R.L. Puckett

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

Natalie M. Gallant, Karen Leydiker, Hao Tang et al. · Molecular Genetics and Metabolism · 2012 · 74 citations

Newborn Screening, Pediatric Hematology, Medicine +7

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

R.L. Puckett, Fred Lorey, Piero Rinaldo et al. · Molecular Genetics and Metabolism · 2009 · 64 citations

Urology, Newborn Screening, Variant Forms +10

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

R.L. Puckett, Steven A. Moore, Thomas Winder et al. · Neuromuscular Disorders · 2009 · 34 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +7

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

R.L. Puckett, Joseph J. Orsini, GM Pastores et al. · Molecular Genetics and Metabolism · 2011 · 27 citations

Molecular Diagnostic Techniques, Newborn Screening, Inherited Metabolic Disease +7

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Karen Leydiker, Julie Neidich, Fred Lorey et al. · Molecular Genetics and Metabolism · 2011 · 15 citations

Newborn Screening, Pediatrics, Maternal Health +7