Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992