Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and li...
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
About this item
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Aromatic
L
-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder that can lead to severe physical and developmental impairment. This report includes 16 patients from the Middle East and is the largest series of patients with confirmed AADC deficiency from this region reported to date. The patients displayed a...
Alternative Titles
Full title
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10257624
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10257624
Other Identifiers
ISSN
1432-1076,0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-023-04886-5
