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Opladen, Thomas [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Call, Debora [Author]; Green, Kim [Author]; Schara, Ulrike [Author]; Rascher, Wolfgang [Author]; Hövel, Annegret [Author]; Assmann, Birgit [Author]; Kölker, Stefan [Author]; Westhoff, Jens [Author]; Walter, Magdalena [Author]; Ziegler, Andreas [Author]; Hoffmann, Georg F. [Author]; Kiening, Karl [Author]

Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec

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29 June 2021

Published in: Monatsschrift Kinderheilkunde ; 169(2021), 8, Seite 738-747
Brennenstuhl, Heiko [Author]; Kohlmüller, Dirk [Author]; Gramer, Gwendolyn [Author]; Garbade, Sven [Author]; Syrbe, Steffen [Author]; Feyh, Patrik [Author]; Kölker, Stefan [Author]; Okun, Jürgen G. [Author]; Hoffmann, Georg F. [Author]; Opladen, Thomas [Author]

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12208

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2020

Published in: Journal of inherited metabolic disease ; 43(2020), 3, Seite 602-610
Wassenberg, Tessa [Author]; Jeltsch, Kathrin [Author]; Hoffmann, Georg F. [Author]; Assmann, Birgit [Author]; Blau, Nenad [Author]; Opladen, Thomas [Author]

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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18 January 2017

Published in: Orphanet journal of rare diseases ; 12(2017) Artikel-Nummer 12, 21 Seiten
Wassenberg, Tessa [Author]; Jeltsch, Kathrin [Author]; Hoffmann, Georg F. [Author]; Assmann, Birgit [Author]; Blau, Nenad [Author]; Opladen, Thomas [Author]

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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London: BioMed Central, 18 January 2017
Bisello, Giovanni; Bertoldi, Mariarita

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

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MDPI AG, 2022

Published in: International Journal of Molecular Sciences
Roubertie, Agathe; Anselm, Irina; Ben‐Zeev, Bruria; Hwu, Wuh‐Liang; Kumar, Ashutosh; Monteleone, Berrin; Muramatsu, Shin‐ichi; Leuzzi, Vincenzo; Ibáñez, Salvador; Stone, Scellig; Pearl, Phillip L.

Patient selection considerations for AADC deficiency gene therapy

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Wiley, 2024

Published in: Annals of the Child Neurology Society
Bernichi, João Victor Polegato; Teixeira, Robson Marques Figueiredo Rocha; Paganelli, Maria Stela Lessa

Aromatic L-amino acids decarboxylase (AADC) deficiency: a case report

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Thieme Revinter Publicações Ltda., 2023

Published in: SBN Conference 2022
Khalid, Melati

An Inhibited Dopamine Synthesizing Cell Model of AADC Deficiency

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Biome Scientia Sdn Bhd, 2019

Published in: Life Sciences, Medicine and Biomedicine
Müller, Thomas

Gene therapy takes the fear out of severe AADC deficiency Gentherapie nimmt schwerem AADC-Mangel den Schrecken

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Springer Science and Business Media LLC, 2024

Published in: MMW - Fortschritte der Medizin
Malaquias, Maria João; Magrinelli, Francesca; Bhatia, Kailash P.

Breakthrough News in Adenoviral Vector‐Mediated AADC Gene Therapy: Lessons from the Success in AADC Deficiency and Possible Future Applications

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Wiley, 2022

Published in: Movement Disorders Clinical Practice
Bisello, Giovanni; Saris, Christiaan G.J.; Franchini, Rossella; Verbeek, Marcel M.; Willemsen, Michel A.A.P.; Perduca, Massimiliano; Bertoldi, Mariarita

An attenuated, adult case of AADC deficiency demonstrated by protein characterization

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Elsevier BV, 2024

Published in: Molecular Genetics and Metabolism Reports
Linden Jr., Helio van der; Cobas, Christiane; Duarte, Andre Felipe Pinto; Masruha, Marcelo Rodrigues

Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

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FapUNIFESP (SciELO), 2023

Published in: Journal of Inborn Errors of Metabolism and Screening
Rizzi, Susanna; Spagnoli, Carlotta; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo

Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review

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Hindawi Limited, 2022

Published in: Behavioural Neurology
Tai, Chun-Hwei; Lee, Ni-Chung; Chien, Yin-Hsiu; Byrne, Barry J.; Muramatsu, Shin-Ichi; Tseng, Sheng-Hong; Hwu, Wuh-Liang

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency

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Elsevier BV, 2022

Published in: Molecular Therapy
Saberian, S; Rowan, P; Hammes, F; Patel, P; Fernández-Cortés, F; Beitia Ortiz de Zarate, I; Buesch, K

POSA192 Disease Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: Signs and Symptoms

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Elsevier BV, 2022

Published in: Value in Health
Boehnke, A; Balman, E; Davidson, I; Hobdell, K; Rance, M; Buesch, K

POSC384 Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in UK: Burden of Disease

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Elsevier BV, 2022

Published in: Value in Health
Fusco, Carlo; Leuzzi, Vincenzo; Striano, Pasquale; Battini, Roberta; Burlina, Alberto; Spagnoli, Carlotta

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

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Springer Science and Business Media LLC, 2021

Published in: Italian Journal of Pediatrics
Wassenberg, Tessa; Geurtz, Ben P.H.; Monnens, Leo; Wevers, Ron A.; Willemsen, Michèl A.; Verbeek, Marcel M.

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

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Elsevier BV, 2021

Published in: Molecular Genetics and Metabolism Reports
Smith AB; Hanbury A; Whitty JA; Buesch K

A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

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2021

Published in: Patient Related Outcome Measures
Smith, Adam B; Hanbury, Andria; Whitty, Jennifer A; Buesch, Katharina

A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

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Informa UK Limited, 2021

Published in: Patient Related Outcome Measures

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