Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990
A Follow-up Study of Intractable Seizures in Childhood
Ann Neurol 28:699-705, Huttenlocher,P.R.&Hapke,R.J., 1990
Neurological Manifestations in Three German Children with AIDS
Neuropediatrics 18:99-106, Biggemann,B.,et al, 1987