Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseAdam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated NeurodegenerationThomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, et al.
Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
Pediatric Neurology|March 24, 2009
Newborn screening for Krabbe disease: the New York State modelPatricia K Duffner, Michele Caggana, Joseph J Orsini, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
Pageof 9