Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinicopathologic Conference, Ingestion of Isopropyl Alcohol
NEJM 380:1657-1665, Case 13-2019, 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Wilson Disease
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
Adams & Victors Principles of Neurology, Chp 37, pg 953, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Specificity of the Urine Inhibitor Test for Leigh's Disease
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Pediatric Neurology
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