Results 121 to 130 of about 4,338 (139)
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis. [PDF]
Orphanet J Rare DisGarrison SR +8 more
europepmc +1 more source
Biochemical and Biophysical Research Communications, 2019 Precise pathophysiology with respect to the phenotypic variations and severity of X-ALD, specifically between adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD), has not been fully discovered.
Sung Won Kwon +2 more
exaly +2 more sources
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study [PDF]
Neurotherapeutics, 2019 X-Adrenoleukodystrophy (X-ALD) and its adult-onset, most prevalent variant adrenomyeloneuropathy (AMN) are caused by mutations in the peroxisomal transporter of the very long-chain fatty acid ABCD1.
Nuria Bargallo +2 more
exaly +2 more sources
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Understanding the Adrenomyeloneuropathy (AMN) Patient Journey (P12-13.009)
Neurology, 2022Florian S Eichler
exaly
A novel G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
Genes and Diseases, 2021Liu Zhenguo, Xinghua Tang
exaly
Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Neurourology and Urodynamics, 1998Ryuji Sakakibara +2 more
exaly