Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Nastassja Himmelreich,Mariarita Bertoldi,Majid Alfadhel,Malak Alghamdi,Yair Anikster,Xinhua Bao,Fahad A. Bashiri,Bruria Ben Zeev,Giovanni Bisello,Ahmet Cevdet Ceylan,Yin-Hsiu Chien,Yew-Sing Choy,Sarah H. Elsea,Lisa Flint,Angels García-Cazorla,Charul Gijavanekar,Emel Gümüs,Muddathir H. Hamad,Burcu Ozturk Hismi,Tomas Honzik,Oya Kuseyri Hübschmann,Wuh-Liang Hwu,Salvador Ibáñez-Micó,Kathrin Jeltsch,Natalia Juliá-Palacios,Çiğdem Seher Kasapkara,Manju A. Kurian,Katarzyna Kusmierska,Ning Liu,Lock Hock Ngu,John Odom,Winnie Peitee Ong,Thomas Opladen,Marie Oppeboen,Phillip L. Pearl,Belén Pérez,Roser Pons,Agnieszka M. Rygiel,Robert Spaull,Jolanta Sykut-Cegielska,Brahim Tabarki,Trine Tangeraas,Beat Thöny,Tessa Wassenberg,Yongxin Wen,Yusnita Yakob,J. G. Yin,Jiri Zeman,Nenad Blau +48 more
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About: This article is published in Molecular Genetics and Metabolism. The article was published on 07 Jul 2023. and is currently open access. The article focuses on the topics: Medicine & In silico.
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Citations
Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Aaron M Cohen,Jolie Kaner,Ryan Miller,Jeffrey W Kopesky,William Hersh +4 more
TL;DR: This work validates the approach that large-scale rare-disease screening can be accomplished by combining predictions for relevant individual symptoms and related conditions which are much more common and for which training data is easier to create.
References
Gene therapy for aromatic L-amino acid decarboxylase deficiency.
Wuh-Liang Hwu,Shin-ichi Muramatsu,Sheng-Hong Tseng,Kai-Yuan Tzen,Ni-Chung Lee,Yin-Hsiu Chien,Richard O. Snyder,Barry J. Byrne,Chun-Hwei Tai,Ruey-Meei Wu +9 more
TL;DR: In this paper, the authors performed adeno-associated viral vector-mediated gene transfer of the human AADC gene bilaterally into the putamen of four patients 4 to 6 years of age.
235
Structural insight into Parkinson's disease treatment from drug-inhibited DOPA decarboxylase.
Peter Burkhard,Paola Dominici,Carla Borri-Voltattorni,Johan N. Jansonius,Vladimir N. Malashkevich,Vladimir N. Malashkevich +5 more
TL;DR: The crystal structures of ligand-free DDC and its complex with the anti-Parkinson drug carbiDOPA are presented and provide the molecular basis for the development of new inhibitors of DDC with better pharmacological characteristics.
224
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
L. Brun,Lock Hock Ngu,W. T. Keng,G. S. Ch'ng,Y. S. Choy,Wuh-Liang Hwu,Wang-Tso Lee,Michèl A.A.P. Willemsen,Marcel M. Verbeek,Tessa Wassenberg,Luc Régal,Simona Orcesi,Davide Tonduti,Patrizia Accorsi,H. Testard,Jose E. Abdenur,S. Tay,G. F. Allen,Simon Heales,Ilse Kern,Mitsuhiro Kato,Alessandro P. Burlina,C. Manegold,Georg F. Hoffmann,Nenad Blau +24 more
TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.
218
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
TL;DR: The clinical features, biochemical details, and treatment of the first detected cases of an inborn error of aromatic L-amino acid decarboxylase of male monozygotic twins presented with extreme hypotonia and oculogyric crises are reported.
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg,Marta Molero-Luis,Kathrin Jeltsch,Georg F. Hoffmann,Birgit Assmann,Nenad Blau,Angeles Garcia-Cazorla,Rafael Artuch,Roser Pons,Toni S. Pearson,Vincenco Leuzzi,Mario Mastrangelo,Phillip L. Pearl,Wang-Tso Lee,Manju A. Kurian,Simon Heales,Lisa Flint,Marcel M. Verbeek,Michèl A.A.P. Willemsen,Thomas Opladen +19 more
TL;DR: This consensus guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.