A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Improved Neurologic Function After Long-Term Correction of Vitamin E Deficiency in Children with Chronic Cholestasis
NEJM 313:1580-1586, Sokol,R.J.,et al, 1985
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
Neurol 33:1479-1483, Royden,H.,et al, 1983
A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,et al, 1981
Association Of Spinocerebellar Disorders With Cystic Fibrosis Or Chronic Childhood Cholestasis & Very Low Serum Vit. E
Lancet 2:1319-1321, Elias,E.,et al, 1981