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Pyruvate Dehydrogenase Deficiency (PDCD)
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Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
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MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015
Cognitive Delay in a 7-year-old Girl
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
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Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Angiokeratoma Corporis Diffusum
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