Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988
Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962