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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