Results 131 to 140 of about 3,970 (184)

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. [PDF]

Mol Genet Metab
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML.   +47 more
europepmc   +1 more source

A novel homozygous <i>PSAP</i> mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report. [PDF]

J Int Med Res
Li X, Kuang X, Huang G, Liu Z, Yan S.
europepmc   +1 more source

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review. [PDF]

JBI Evid Synth
Koto Y, Ueki S, Yamakawa M, Sakai N.
europepmc   +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

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

Metachromatic Leukodystrophy

, 2011
openaire   +2 more sources

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

Metachromatic leukodystrophy

, 2018
openaire   +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