Results 121 to 130 of about 5,931 (183)

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. [PDF]

Neurol Genet
Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko.   +37 more
europepmc   +1 more source

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

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2019
openaire   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation as a Therapeutic Approach for Hereditary Diseases. [PDF]

Biomedicines
Nagieva S, Smirnikhina S.
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

'Lenmeldy (OTL-200) in MLD: FDA's validation of advanced therapy'. [PDF]

Ann Med Surg (Lond)
Qureshi AA, Shaikh B, Aswad AS, Saeed AH, Tabassum H, Tahir MF, Jaber MH.   +6 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