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138130
GLUD1
GLUTAMATE DEHYDROGENASE 1
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Musculoskeletal Diseases
Muscular Diseases
Muscle Spasticity
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Basal Ganglia Diseases
Parkinsonian Disorders
Parkinson Disease
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Pyruvate Dehydrogenase Complex Deficiency Disease
Cerebellar Diseases
Cerebellar Ataxia
Spinocerebellar Degenerations
Friedreich Ataxia
Epilepsy
Seizures
Movement Disorders
Parkinsonian Disorders
Parkinson Disease
Spinal Cord Diseases
Spinocerebellar Degenerations
Friedreich Ataxia
Cranial Nerve Diseases
Ocular Motility Disorders
Ophthalmoplegia
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Spinocerebellar Degenerations
Friedreich Ataxia
Parkinson Disease
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Neurobehavioral Manifestations
Consciousness Disorders
Unconsciousness
Intellectual Disability
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Neuromuscular Manifestations
Muscle Hypertonia
Muscle Spasticity
Paralysis
Ophthalmoplegia
Seizures
Eye Diseases
Ocular Motility Disorders
Ophthalmoplegia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Spinocerebellar Degenerations
Friedreich Ataxia
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Pyruvate Dehydrogenase Complex Deficiency Disease
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Pyruvate Dehydrogenase Complex Deficiency Disease
Glucose Metabolism Disorders
Hyperinsulinism
Hypoglycemia
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Pyruvate Dehydrogenase Complex Deficiency Disease
Mitochondrial Diseases
Friedreich Ataxia
Pyruvate Dehydrogenase Complex Deficiency Disease
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Atrophy
Pathologic Processes
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Chromosome Breakage
Disease
Syndrome
Hyperammonemia
Nerve Degeneration
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Neurobehavioral Manifestations
Consciousness Disorders
Unconsciousness
Neuromuscular Manifestations
Muscle Hypertonia
Muscle Spasticity
Paralysis
Ophthalmoplegia
Seizures
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