Results 121 to 130 of about 7,353 (158)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency. [PDF]

Ann Clin Transl Neurol
Savvidou A, Reilly C, Sofou K, Ygberg S, Eklund EA, Naess K, Darin N.   +6 more
europepmc   +1 more source

Homozygosity for a Clinically Significant <i>GALC</i> Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling. [PDF]

Int J Neonatal Screen
Schecter DR, Donnelly C, White A, Raynes H, Heller G, Rajan D, Saavedra-Matiz CA, Orsini J, Boelens JJ, Matern D, Ganesh J.   +10 more
europepmc   +1 more source

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

Cells
Brakebusch C.
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

Study Designs and Crafting Endpoints for Gene Therapy Development Programs in Rare Disease: A Narrative Review. [PDF]

Adv Ther
Murray LT, Yin Y, Phillips D, Coats J, Tran H, Dashiell-Aje E, Rizzo M, Parker S, on behalf of the Rare Disease Clinical Outcome Assessment Consortium.   +8 more
europepmc   +1 more source

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

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy. [PDF]

J Inherit Metab Dis
Beerepoot S, Schoenmakers DH, Fumagalli F, Groeschel S, Schöls L, Schiffmann R, Wong S, Boespflug-Tanguy O, Sevin C, Nadjar Y, Bley A, Mochel F, Horn MA, Baldoli C, Locatelli S, Hengel H, Laugwitz L, Hollak CEM, Gieselmann V, van der Knaap MS, Wolf NI.   +20 more
europepmc   +1 more source

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study. [PDF]

Ann Child Neurol Soc
Kotes ER, Woidill S, D'Aiello R, Khan A, McCann J, Ramos M, Gavazzi F, Keller S, Van Haren K, Fatemi A, Eichler F, Bonkowsky J, Fraser J, Emrick L, Sherbini O, Hackett A, Gauna J, Amos D, Goodman J, Fine AS, Nagy A, Lee S, Page N, Schmidt J, Pizzino A, Muirhead K, Bennett M, Waldman A, Shults J, Adang L, Grundmeier R, Vanderver A.   +31 more
europepmc   +1 more source