Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Inborn Errors of Metabolism
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Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Practice Parameter: Evaluation of the Child with Global Developmental Delay
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