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Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.

Authors: Trishna, Kantamneni; Lileth, Mondok; Sumit, Parikh;

Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.

Abstract

Movement disorders in the pediatric age group are largely of the hyperkinetic type. Metal ion accumulation in the central nervous system presents predominantly with movement disorders and over time leads to psychomotor decline. Abnormalities in monoamine and amino acidergic neurotransmitter metabolism present in individuals with a combination of abnormal movements, epilepsy, and cognitive and motor delay. Detailed clinical history, careful examination, appropriate diagnostic work-up with metabolic screening, cerebrospinal fluid neurotransmitters, and targeted genetic testing help with accurate diagnosis and appropriate treatment. This article provides an overview on movement disorders present in childhood secondary to inborn errors of metal transport and neurotransmitter metabolism.

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Keywords

Neurotransmitter Agents, Movement Disorders, Neonatal Screening, Metals, Child, Preschool, Infant, Newborn, Humans, Infant, Child, Metabolism, Inborn Errors

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
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