Results 121 to 130 of about 7,348 (160)

A systematic review on the birth prevalence of metachromatic leukodystrophy. [PDF]

Orphanet J Rare Dis
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y.   +4 more
europepmc   +1 more source

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations. [PDF]

Mol Ther Nucleic Acids
Tricoli L, Sase S, Hacker JL, Pham V, Chappell M, Breda L, Hurwitz SN, Tanaka N, Castruccio Castracani C, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Hogenauer M, Roche A, Everett J, Bushman F, Kurre P, Ahrens-Nicklas R, Adang LA, Vanderver AL, Rivella S.   +21 more
europepmc   +1 more source

Metachromatic leukodystrophy: A story of hope woven from sorrow. [PDF]

Mol Ther
Adang L.
europepmc   +1 more source

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. [PDF]

Cytotherapy
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A.   +31 more
europepmc   +1 more source

Metachromatic leukodystrophy in infant presenting as acute febrile illness: a case report. [PDF]

Ann Med Surg (Lond)
Acharya S, Upadhaya Regmi B, Adhikari Y, Thapa P, Basnet D, Paudel B.   +5 more
europepmc   +1 more source

Atidarsagene autotemcel for metachromatic leukodystrophy. [PDF]

J Manag Care Spec Pharm
Fahim SM, Lin G, Suh K, Carlson JJ, Richardson M, Herce-Hagiwara B, Dickerson R, Pearson SD, Rind DM, Agboola F.   +9 more
europepmc   +1 more source

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy. [PDF]

Ann Clin Transl Neurol
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C.   +9 more
europepmc   +1 more source

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK. [PDF]

Int J Neonatal Screen
Bean K, Jones SA, Chakrapani A, Vijay S, Wu T, Church H, Chanson C, Olaye A, Miller B, Jensen I, Pang F.   +10 more
europepmc   +1 more source

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