Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta, +59

Molecular Genetics and Metabolism

Translational MedicineChronic Kidney DiseaseRenal PathologyPathologyTranslational Research +3

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon, +29

Journal of Inherited Metabolic Disease

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial

Denise M. Ney, Bridget M. Stroup, Murray K. Clayton, +4

American Journal of Clinical Nutrition

NutritionRenal FunctionMedicineDiabetesClinical Nutrition +3

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency

Gerald F. Cox, Masayoshi Souri, Toshifumi Aoyama, +5

The Journal of Pediatrics

CardiomyopathyExcellent Neuropsychologic OutcomeBiochemistryMetabolic DiseaseInherited Metabolic Disease +4

Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management

Kathryn N. North, Mark Korson, Yasodha R. Gopal, +4

The Journal of Pediatrics

NeonatologyNeonatal-onset Propionic AcidemiaFetal MedicinePediatricsMaternal Health +4

New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcomes

Frances Rohr, Lauren Doherty, Susan E. Waisbren, +4

The Journal of Pediatrics

Maternal ComplicationReproductive HealthPediatricsGynecologyMaternal Health +12

Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria

Benjamı́n Caballero, Barbara E. Mahon, Frances Rohr, +2

The Journal of Pediatrics

UrologyRenal FunctionMedicineChronic Kidney DiseaseClinical Nutrition +6

Detection of Phenylketonuria in the Very Early Newborn Blood Specimen

Lauren Doherty, Frances Rohr, Harvey L. Levy

PEDIATRICS

Blood Phenylalanine LevelUrologyNeonatologyCutoff LevelMedicine +8

Necessity of Complete Intake of Phenylalanine-free Amino Acid Mixture for Metabolic Control of Phenylketonuria

GLORIA P DURAN, Frances Rohr, Alfred E. Slonim, +2

Journal of the American Dietetic Association

NutritionUrologyRenal FunctionNutrient PhysiologyMedicine +7

Galactose Content of Legumes, Caseinates, and Some Hard Cheeses: Implications for Diet Treatment of Classic Galactosemia

Sandra C. Van Calcar, Laurie Bernstein, Frances Rohr, +3

Journal of Agricultural and Food Chemistry

Food ChemistryNutritionHealth SciencesFood CompositionAnimal Nutrition +11