Results 161 to 170 of about 24,692 (277)

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

, 2008
Atkinson, John P, Kavanagh, David, Kothari, Parul H, Liszewski, M Kathryn, Richards, Anna, Shaikh, Aisha, Spitzer, Dirk   +6 more
core   +1 more source

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis. [PDF]

Neuroimage Clin
Vorst GHJ, Wolf NI, van Nederpelt DR, Barkhof F, van der Knaap MS, Schoonheim MM, Strijbis EMM, Pouwels PJW.   +7 more
europepmc   +1 more source

<i>DEGS1</i>-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature. [PDF]

Neurol Genet
Grinberg M, Dale B, Ramachandrannair R, Tarnopolsky M, Whitney R, Ejaz R.   +5 more
europepmc   +1 more source

Expanding the Genotype Spectrum- A Novel POLR3B Variant in 4H Leukodystrophy. [PDF]

Ann Indian Acad Neurol
Sachithanandan S, Krishnan S, Urulangodi M, Puthenveedu DK, Vijayaraghavan A.   +4 more
europepmc   +1 more source

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

The impact of leukodystrophies on parents' lives. [PDF]

J Pediatr Psychol
Zampini L, Cordolcini L, Draghi L, Zanchi P, Vaia Y, Bonaventura E, Tonduti D.   +6 more
europepmc   +1 more source

Cognitive and intellectual functioning in leukodystrophy patients: a systematic review. [PDF]

Orphanet J Rare Dis
Grol WHM, van der Knaap MS, Wolf NI, Geurtsen GJ.   +3 more
europepmc   +1 more source

Editorial for Special Issue on Gene Therapy of Rare Diseases. [PDF]

Cells
Brakebusch C.
europepmc   +1 more source