Results 161 to 170 of about 18,427 (209)

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family. [PDF]

Appl Clin Genet
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM.   +13 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

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort. [PDF]

Neuropsychiatr Dis Treat
Zhang Y, Shi X, Huang J, Wang C, Wu S, Tian G, Jia J, Chen Y.   +7 more
europepmc   +1 more source

Adrenoleukodystrophy.

Archives of pathology & laboratory medicine, 2003
Xia, Chen, Ronald A, DeLellis, Syed A, Hoda   +2 more
openaire   +1 more source

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy. [PDF]

Brain Commun
Yska HAF, Stellingwerff MD, Roosendaal SD, Voermans MMC, van der Knaap MS, Pouwels PJW, Engelen M.   +6 more
europepmc   +1 more source

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy [PDF]

Brain, 2017
The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disease, as devastating as childhood cerebral adrenoleukodystrophy. Allogeneic haematopoietic stem cell transplantation has been demonstrated
Jörn-Sven Kühl
exaly   +3 more sources

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Adrenoleukodystrophy

Current Opinion in Neurology, 1995
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world.
M, Rosenkilde, E, Albrecht-Beste, A, Wagner   +2 more
openaire   +4 more sources