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Chapter 5 - Biochemical Testing for Metabolic Movement Disorders

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Nenad Blau  and
Georg F. Hoffmann
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Strategies in the biochemical testing for movement disorders depend on the available laboratory test panels and clinical description of the patient. Clinical signs and symptoms may already provide a hint for the selection of biochemical investigations.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 69 - 83
Publisher: Cambridge University Press
Print publication year: 2020

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References

Garcia-Cazorla, A, Wolf, NI, Mochel, F, Hoffmann, GF. Neurological disease. In Hoffmann, GF, editor. Inherited Metabolic Diseases. Berlin: Springer-Verlag; 2017, pp. 251–92.Google Scholar
Ebrahimi-Fakhari, D, Van Karnebeek, C, Munchau, A. Movement disorders in treatable inborn errors of metabolism. Mov Disord. 2019;34:598–613.Google Scholar
Christensen, CK, Walsh, L. Movement disorders and neurometabolic diseases. Semin Pediatr Neurol. 2018;25:82–91.CrossRefGoogle ScholarPubMed
Jinnah, HA, Albanese, A, Bhatia, KP, et al. Treatable inherited rare movement disorders. Mov Disord. 2018;33(1):21–35.CrossRefGoogle ScholarPubMed
Lee, JJY, Wasserman, WW, Hoffmann, GF, van Karnebeek, CDM, Blau, N. Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genet Med. 2018;20(1):151–8.Google Scholar
Ferreira, CR, van Karnebeek, CDM, Vockley, J, Blau, N. A proposed nosology of inborn errors of metabolism. Genet Med. 2019;21(1):102–6.Google Scholar
Ferreira, CR, Hoffmann, GF, Blau, N. Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders. Mol Genet Metab. 2019;127(1):28–30.Google ScholarPubMed
Hoffmann, FG, Blau, N. Signs and symptoms of neurotransmitter disorders: Approach to diagnosis. In Hoffmann, FG, Blau, N, editors. Congenital Neurotransmitter Disorders: A Clinical Approach. Huppauge, NY: Nova Publishers Inc; 2014.Google Scholar
Wevers, RA, Blau, N. Think big: Think omics. J Inherit Metab Dis. 2018;41(3):281–3.Google Scholar

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