Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Genetics in Medicine Open|January 15, 2026
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe diseaseAnkit K Desai, Eleanor Rodriguez-Rassi, Suhag Parikh, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 2018
Acetyl-l-carnitine deficiency in patients with major depressive disorderCarla Nasca, Benedetta Bigio, Francis S Lee, et al.
Prenatal Diagnosis|November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospectsAkos Herzeg, Beltran Borges, Billie R Lianoglou, et al.
JIMD Reports|February 15, 2015
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningYin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, et al.
Human Molecular Genetics|September 27, 2018
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type IaLauren R Waskowicz, Jin Zhou, Dustin J Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe diseaseYoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
Human Molecular Genetics|May 22, 2014
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemiaSander M Houten, Simone Denis, Heleen Te Brinke, et al.
JAMA Network Open|February 1, 2020
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaStacey Lee, Kristin Clinard, Sarah P Young, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 19, 2010
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Christiane Auray-Blais, Aimé Ntwari, Joe T R Clarke, et al.
Pageof 9