Results 151 to 160 of about 18,288 (188)

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

Neurofilament light chain as a biomarker to indicate early activation of cerebral disease in boys with adrenoleukodystrophy. [PDF]

Commun Med (Lond)
Lund TC, Gupta AO, Loes DJ, Nascene DR, Orchard PJ.   +4 more
europepmc   +1 more source

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

LOES score in adrenoleukodystrophy: indications for bone marrow transplantation [PDF]

, 2009
Casimiro, C, Fineza, I, Garcia, P, Martins, J, Melo Freitas, P, Parreira, T, Ramos, F   +6 more
core  

Clinical Applecation, Clinical Sciences [PDF]

, 2006
浜崎 智仁, 渡辺 志朗, 長澤 哲郎   +2 more
core   +1 more source

Refsum disease [PDF]

, 2015
Leroy, Bart, Wanders, Ronald JA, Waterham, Hans R   +2 more
core  

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

Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases. [PDF]

JCEM Case Rep
Singhal A, Menon JC, Yadav SC, Gupta A, Sriharsha G, Bhatia E.   +5 more
europepmc   +1 more source