Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review (original) (raw)
Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia
Hesham Aldhalaan
Frontiers in Pediatrics
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Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
Jehan suleiman
European Journal of Pediatrics, 2023
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Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency
Jehan suleiman
Frontiers in Pediatrics, 2022
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Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review
Carlotta Spagnoli
Behavioural Neurology
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Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus
Carlo Fusco
Italian Journal of Pediatrics
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AromaticL-amino acid decarboxylase deficiency: Overview of clinical features and outcomes
Norma Spécola
Annals of Neurology, 2003
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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich
Molecular Genetics and Metabolism, 2019
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Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology
Ron Wevers
Clinical chemistry
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Roser Pons
Orphanet journal of rare diseases, 2017
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Aromatic L-amino acid decarboxylase deficiency: perspectives on diagnosis and management
Stacey Tay
Pediatric Health, Medicine and Therapeutics, 2013
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A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications
Barbara Cellini, Alejandro Giorgetti
Human molecular genetics, 2014
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Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency
Takashi Shiihara
Brain & Development, 2010
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Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction
Sheng-Hai Wu
Taiwanese Journal of Obstetrics & Gynecology, 2000
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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
CHI KIN Lai
Clinica Chimica Acta, 2012
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Gene therapy in the treatment of aromatic L -amino acid decarboxylase deficiency
Agata A Filip
Pediatria i Medycyna Rodzinna, 2021
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Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
Francyne Kubaski
Molecular Genetics and Metabolism Reports
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Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy
Vykuntaraju K Gowda
Journal of Pediatric Genetics, 2020
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Aromatic l-amino acid decarboxylase deficiency: An extrapyramidal movement disorder with oculogyric crises
Taraka Donti
European Journal of Paediatric Neurology, 1997
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Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Chiara Diquigiovanni
Gene, 2015
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Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Helio van der Linden
Journal of Inborn Errors of Metabolism and Screening
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Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency
M. Bertoldi, Massimiliano Perduca
Protein Science, 2023
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A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients
Richard Poulin III
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Mutations and Phenotypes In Dihydropteridine Reductase Deficiency in Italy
Luisa Sanctis
Pteridines, 1996
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Isolation and characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase
Jean-luc Poyet
Biochemical and Biophysical Research Communications, 1989
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New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population
Bassam Ali
Saudi medical journal, 2011
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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates
Sania Al Hamad
Sultan Qaboos University Medical Journal, 2014
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Inborn errors of amino acid metabolism in North India
Manjeet Kaur
Journal of Inherited Metabolic Disease, 1994
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