(Q31159730)

29 June 2017

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title

Movement disorders and inborn errors of metabolism in adults: a diagnostic approach (English)

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29 June 2017

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4

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author name string

F Sedel

1

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29 June 2017

J-M Saudubray

2

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29 June 2017

E Roze

3

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29 June 2017

M Vidailhet

5

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29 June 2017

publication date

30 May 2008

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Journal of Inherited Metabolic Disease

29 June 2017

published in

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29 June 2017

volume

31

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29 June 2017

issue

3

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29 June 2017

page(s)

308-318

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0854-5

29 June 2017

exact match

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cites work

Contribution of CSF analysis to the diagnosis of inborn errors of metabolism in adult patients

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Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency

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Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease

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Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

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Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms

21 January 2018

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Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

21 January 2018

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MR imaging of cerebral cortical involvement in aceruloplasminemia.

21 January 2018

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12 December 2020

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

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Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

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Adult-onset chorea and mitochondrial cytopathy

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Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

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Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

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Parkinson syndrome as a manifestation of mitochondriopathy

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Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

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Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity

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Late-onset presentation of pyruvate dehydrogenase deficiency

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Clinical report of three patients with hereditary hemochromatosis and movement disorders

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Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

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12 December 2020

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

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12 December 2020

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12 December 2020

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12 December 2020

Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia

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12 December 2020

Neuropathology provides clues to the pathophysiology of Gaucher disease

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

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12 December 2020

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12 December 2020

Adult-onset chorea and dementia with propionic acidemia

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Two siblings with homocystinuria presenting with dystonia and parkinsonism.

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12 December 2020

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

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12 December 2020

Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases

1 reference

12 December 2020

10.1007/S10545-008-0854-5

Identifiers

DOI

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Dimensions Publication ID

29 June 2017

1050314854

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1 reference