Results 171 to 180 of about 15,059 (213)

Recessive Mutations in Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts [PDF]

core   +1 more source

Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series. [PDF]

Blood Adv
Riedel A, Faul C, Reuss K, Schröder JC, Lang PJ, Lengerke C, Weissert N, Hengel H, Gröschel S, Schoels L, Bethge WA.   +10 more
europepmc   +1 more source

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study. [PDF]

Protein Cell
Zhang Z, Jiang H, Huang L, Liu S, Zhou X, Cai Y, Li M, Gao F, Liang X, Tsang KS, Chen G, Ma CY, Chai YH, Liu H, Yang C, Yang M, Zhang X, Han S, Du X, Chen L, Hwu WL, Zhuo J, Lian Q.   +22 more
europepmc   +1 more source

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series. [PDF]

J Neurol
Beerepoot S, Boelens JJ, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, van der Knaap MS, Bugiani M, Wolf NI.   +8 more
europepmc   +1 more source

The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland. [PDF]

Orphanet J Rare Dis
Thomas S, Morrison A, Morton G, Roberts P, Clark V, Imrie J.   +5 more
europepmc   +1 more source

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. [PDF]

Mol Genet Metab
Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY.   +14 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2018
openaire   +1 more source

Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy. [PDF]

Mol Ther Methods Clin Dev
Audouard E, Khefif N, Mansat C, Nelcha O, Banchi EG, Lupiet C, Farabos D, Lamaziere A, Sevin C, Piguet F.   +9 more
europepmc   +1 more source

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. [PDF]

Orphanet J Rare Dis
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI.   +15 more
europepmc   +1 more source

[Metachromatic leukodystrophy].

Revista chilena de pediatria, 1985
M, Aracena, E, Valenzuela, E, Selman, C, Milos   +3 more
openaire   +1 more source