Metabolism, Inborn Errors

An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism

Acceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of Phenylketonuria

COVID-19 and Hereditary Metabolic Diseases

A Phase 3 Study of NTLA-2001 in ATTRv-PN

Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

Cardiac Manifestation and Inherited Metabolic Diseases

Biomarker for Hurler Disease (BioHurler)

Genetic Etiology in Patients With Cerebral Palsy

Natural History Study of Children With Metachromatic Leukodystrophy

Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia

North Carolina Newborn Exome Sequencing for Universal Screening

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration

An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia

Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia

Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia

Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders

Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia

Diagnostic and Screening Study of Genetic Disorders

Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency