Results 161 to 170 of about 15,059 (213)

The second report of a new hypomyelinating disease due to a defect in the gene discloses a massive lysosomal involvement [PDF]

core   +1 more source

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2019
openaire   +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

Metachromatic leukodystrophy

, 2014
openaire   +1 more source

Metachromatic leukodystrophy [PDF]

, 2020
openaire   +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

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