Pyruvate Dehydrogenase Deficiency (PDCD)
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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
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
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
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966