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Article

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

European journal of pediatrics - 1 Jun 2023

Abukhaled Musaad, Al Muqbil Mohammed, Alghamdi Malak Ali, Hundallah Khalid, Suleiman Jehan, Ben-Omran Tawfeg, Alfadhel Majid, Almannai Mohammed, Alsaleh Rehab, Tabarki Brahim

Abstract excerpt

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 range of signs and symptoms at presentation and almost all failed to...

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Identifiers

PMID: 36928758
DOI: 10.1007/s00431-023-04886-5
PMCID: PMC10257624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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