Results 111 to 120 of about 818 (145)

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

Frontiers in Neurology, 2023
Julia Macintosh, Stefanie Perrier, Maxime Pinard   +2 more
exaly  

Metachromatic Leukodystrophy

Journal of Child Neurology, 2016
Florian Eichler, Timothy M Cox, Christine I Dali   +2 more
exaly  

Metachromatic Leukodystrophy – An Update

Neuropediatrics, 2010
V Gieselmann, I Krägeloh-Mann
exaly  

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

Lancet, The, 2016
Maria Sessa, Laura Lorioli, Francesca Fumagalli   +2 more
exaly  

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

Best Practice and Research in Clinical Endocrinology and Metabolism, 2015
Diane F Van Rappard, Jaap Jan Boelens, Nicole I Wolf   +2 more
exaly  

Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Pediatric Neurology, 2020
Pinar Bayrak-Toydemir, Joshua L Bonkowsky   +1 more
exaly  

Metachromatic Leukodystrophy

The Biomedical & Life Sciences Collection, 2007
openaire   +1 more source

Leukodystrophy incidence in Germany

American Journal of Medical Genetics Part A, 1997
Jutta Gärtner, Wolfgang Kohler, A Kohlschütter   +2 more
exaly  

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model

Molecular Therapy, 2018
Fuzheng Guo, Bokyung Kim, David Pleasure   +2 more
exaly  

Leukodystrophies

2014
Paritosh C. Khanna, Russell P. Saneto
openaire   +1 more source