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European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Pediatrics|July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathyCarlos E Prada, John L Jefferies, Michelle A Grenier, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Pediatric Neurology|March 30, 2023
Motor Function and Physiology in Youth With Neurofibromatosis Type 1Alexander C Doherty, David A Huddleston, Paul S Horn, et al.
Pediatric Neurology|May 22, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1Donald L Gilbert, Lindsey E Aschbacher-Smith, Karlee Y Migneault, et al.
Molecular Genetics and Metabolism|June 4, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysisErika R Vucko, Katie Arduini, Karen Becker, et al.
The Analyst|August 17, 2017
A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic responseWujuan Zhang, Melissa Oehrle, Carlos E Prada, et al.
Pediatric Cardiology|October 9, 2023
Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart DiseaseJorge L Alvarado, Anderson Bermon, Claudia Florez, et al.
Rheumatology (Oxford, England)|March 20, 2010
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathyChristine P Diggle, Ian M Carr, Emanuel Zitt, et al.
Molecular Genetics and Metabolism|June 26, 2012
Recurrent pancreatitis in ornithine transcarbamylase deficiencyCarlos E Prada, Ajay Kaul, Robert J Hopkin, et al.
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