Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes-Reference-Cited by-全球学者库

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Published:2023-07 Issue:3 Volume:139 Page:107624
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Himmelreich Nastassja,Bertoldi Mariarita,Alfadhel Majid,Alghamdi Malak Ali,Anikster Yair,Bao Xinhua,Bashiri Fahad A.,Zeev Bruria Ben,Bisello Giovanni,Ceylan Ahmet Cevdet,Chien Yin-Hsiu,Choy Yew Sing,Elsea Sarah H.,Flint Lisa,García-Cazorla Àngels,Gijavanekar Charul,Gümüş Emel Yılmaz,Hamad Muddathir H.,Hişmi Burcu,Honzik Tomas,Hübschmann Oya Kuseyri,Hwu Wuh-Liang,Ibáñez-Micó Salvador,Jeltsch Kathrin,Juliá-Palacios Natalia,Kasapkara Çiğdem Seher,Kurian Manju A.,Kusmierska Katarzyna,Liu Ning,Ngu Lock Hock,Odom John D.,Ong Winnie Peitee,Opladen Thomas,Oppeboen Mari,Pearl Phillip L.,Pérez Belén,Pons Roser,Rygiel Agnieszka Magdalena,Shien Tan Ee,Spaull Robert,Sykut-Cegielska Jolanta,Tabarki Brahim,Tangeraas Trine,Thöny Beat,Wassenberg Tessa,Wen Yongxin,Yakob Yusnita,Yin Jasmine Goh Chew,Zeman Jiri,Blau Nenad

Funder

Great Ormond Street Hospital Charity

Universität Heidelberg

National Institute on Handicapped Research

Narodowym Centrum Nauki

Rosetrees Trust

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference33 articles.

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2. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology;Hyland;Clin. Chem.,1992

3. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency;Brun;Neurology,2010

4. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet. J. Rare Dis.,2017

5. Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan;Hwu;JIMD Rep.,2018

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling;Journal of Human Genetics;2024-01-12

2. Patient selection considerations for AADC deficiency gene therapy;Annals of the Child Neurology Society;2024-01-11

3. A clinical case of severe aromatic L-amino acid decarboxylase deficiency;Neuromuscular Diseases;2024-01-05

4. Mouse models for inherited monoamine neurotransmitter disorders;Journal of Inherited Metabolic Disease;2024-01-02

5. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants;Frontiers in Neurology;2023-12-05