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Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of...

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1789034914

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

About this item

Full title

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Publisher

New York: Springer US

Journal title

Metabolic brain disease, 2016-06, Vol.31 (3), p.705-709

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine synthesis. Two clinical phenotypes have been described. The THD “B” phenotype produces a severe encephalopathy of early-onset with sub-optimal L-Dopa response, whereas the “A” phenotype has a better L-Dopa response and outcome. The objective of the study is to describe the expressi...

Alternative Titles

Full title

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1789034914

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1789034914

Other Identifiers

ISSN

0885-7490

E-ISSN

1573-7365

DOI

10.1007/s11011-015-9780-z

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