Susan A. Berry

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Health Supervision for People With Achondroplasia

Health Supervision for Children With Neurofibromatosis Type 1

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Including ELSI research questions in newborn screening pilot studies

Foundation of the Newborn Screening Translational Research Network and its tools for research

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Report of a patient with a constitutional missense mutation in <i>SMARCB1</i>, Coffin–Siris phenotype, and schwannomatosis

Glutamine and hyperammonemic crises in patients with urea cycle disorders

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Newborn screening 50 years later: access issues faced by adults with PKU

Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Insurance coverage of medical foods for treatment of inherited metabolic disorders

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders