Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva, +26

Orphanet Journal of Rare Diseases

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, +50

Genome Medicine

Comparison of bloodstream fatty acid composition from African-American women at gestation, delivery, and postpartum

Ken D. Stark, Skadi Beblo, M.R. Ven Murthy, +8

Journal of Lipid Research

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Nikolas Boy, Katharina Mengler, Eva Thimm, +21

Annals of Neurology

Propionic acidemia: neonatal versus selective metabolic screening

Sarah C. Grünert, S. Müllerleile, L. de Silva, +26

Journal of Inherited Metabolic Disease

Effect of Fish Oil Supplementation on Fatty Acid Status, Coordination, and Fine Motor Skills in Children with Phenylketonuria

Skadi Beblo, H. Reinhardt, Hans Demmelmair, +2

The Journal of Pediatrics

NutritionFatty Acid StatusKinesiologyHealth SciencesOmega-3 Fatty Acid +5

Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, +25

Journal of Inherited Metabolic Disease

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Nikolas Boy, Chris Mühlhausen, Esther M. Maier, +31

Journal of Inherited Metabolic Disease

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

Gordon J. Hildick-Smith, Jeffrey D. Cooney, Caterina Garone, +24

The American Journal of Human Genetics

InflammationMacrocytic AnemiaPhysiologyHematologySideroflexin 4 +5

Fish oil supplementation improves visual evoked potentials in children with phenylketonuria

Skadi Beblo, H. Reinhardt, Ania C. Muntau, +3

Neurology

NutritionNeuropsychologyOphthalmologyNeurophysiologyFatty Acids +11