Results 111 to 120 of about 3,164 (162)

Draining the brain: Gene therapy reverses brain edema in mice with the leukodystrophy MLC. [PDF]

Mol Ther
Min R, van Til NP, van der Knaap MS.
europepmc   +1 more source

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany. [PDF]

Orphanet J Rare Dis
Kehrer C, Bevot A, Martin P, Raabe C, Gregor S, Krägeloh-Mann I, Groeschel S.   +6 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2018
openaire   +1 more source

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. [PDF]

Mol Genet Metab
Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA.   +8 more
europepmc   +1 more source

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. [PDF]

Neurology
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.   +37 more
europepmc   +1 more source

Death Causes Among Iranian Children With Leukodystrophies. [PDF]

J Child Neurol
Shiva M, Hosseinpour S, Ashrafi MR, Heidari M, Rezaei Z, Zebardast J, Mohammadpour M, Bonkowsky JL, Tavasoli AR.   +8 more
europepmc   +1 more source

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures. [PDF]

Eur Radiol
Stellingwerff MD, Al-Saady ML, Chan KS, Dvorak A, Marques JP, Kolind S, Schoenmakers DH, van Voorst R, Roosendaal SD, Barkhof F, Wolf NI, Berkhof J, Pouwels PJW, van der Knaap MS.   +13 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

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source