Results 241 to 250 of about 24,692 (277)

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Brain, 2022
Shanice Beerepoot, Hans Heijst, Birthe Roos   +2 more
exaly  

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Journal of Clinical Endocrinology and Metabolism, 2021
Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi   +2 more
exaly  

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Science, 2013
A. Biffi, E. Montini, L. Lorioli, M. Cesani, F. Fumagalli, T. Plati, C. Baldoli, S. Martino, A. Calabria, Sabrina Canale, F. Benedicenti, G. Vallanti, L. Biasco, Simone Leo, N. Kabbara, G. Zanetti, W. Rizzo, Nalini A. L. Mehta, M. Cicalese, Miriam Casiraghi, J. Boelens, U. Del Carro, D. Dow, M. Schmidt, A. Assanelli, Victor Neduva, C. Di Serio, E. Stupka, J. Gardner, C. von Kalle, C. Bordignon, F. Ciceri, A. Rovelli, M. Roncarolo, A. Aiuti, M. Sessa, L. Naldini   +36 more
semanticscholar   +1 more source

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

Human Genetics, 2020
Lama Al-Abdi, Fathiya Al Murshedi, Alaa Elmanzalawy, A. Al Habsi, Rana Helaby, A. Ganesh, N. Ibrahim, N. Patel, F. Alkuraya   +8 more
semanticscholar   +1 more source

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 Krageloh-Mann
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  

Leukodystrophies

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

Leukodystrophy incidence in Germany

American Journal of Medical Genetics Part A, 1997
Jutta Gärtner, Wolfgang Köhler, Gerhard Kurlemann   +2 more
exaly  

Metachromatic Leukodystrophy

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