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Items: 14

1.
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review
Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
Behav Neurol. 2022; 2022: 2210555. Published online 2022 Oct 11. doi: 10.1155/2022/2210555
PMCID:
PMC9578880
AbstractArticlePDF–375K
2.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
3.
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
Chun-Hwei Tai, Ni-Chung Lee, Yin-Hsiu Chien, Barry J. Byrne, Shin-Ichi Muramatsu, Sheng-Hong Tseng, Wuh-Liang Hwu
Mol Ther. 2022 Feb 2; 30(2): 509–518. Published online 2021 Nov 8. doi: 10.1016/j.ymthe.2021.11.005
PMCID:
PMC8822132
AbstractArticlePDF–1.2M
4.
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Toni S. Pearson, Nalin Gupta, Waldy San Sebastian, Jill Imamura-Ching, Amy Viehoever, Ana Grijalvo-Perez, Alex J. Fay, Neha Seth, Shannon M. Lundy, Youngho Seo, Miguel Pampaloni, Keith Hyland, Erin Smith, Gardenia de Oliveira Barbosa, Jill C. Heathcock, Amy Minnema, Russell Lonser, J. Bradley Elder, Jeffrey Leonard, Paul Larson, Krystof S. Bankiewicz
Nat Commun. 2021; 12: 4251. Published online 2021 Jul 12. doi: 10.1038/s41467-021-24524-8
PMCID:
PMC8275582
AbstractArticlePDF–1.9M
5.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S. Pearson, Laura Gilbert, Thomas Opladen, Angeles Garcia‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, Stacy K. H. Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint
J Inherit Metab Dis. 2020 Sep; 43(5): 1121–1130. Published online 2020 May 14. doi: 10.1002/jimd.12247
PMCID:
PMC7540529
AbstractArticlePDF–1.6M
6.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
7.
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China
Yongxin Wen, Jiaping Wang, Qingping Zhang, Yan Chen, Xinhua Bao
J Hum Genet. 2020; 65(9): 759–769. Published online 2020 May 14. doi: 10.1038/s10038-020-0770-6
PMCID:
PMC7387242
AbstractArticlePDF–966K
8.
Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview
Weiqian Dai, Deyun Lu, Xuefan Gu, Yongguo Yu, the Mainland Chinese League of AADC Rare Disease
Mol Genet Genomic Med. 2020 Mar; 8(3): e1143. Published online 2020 Jan 23. doi: 10.1002/mgg3.1143
PMCID:
PMC7057092
AbstractArticlePDF–1.0M
9.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Devon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, Nicole I Wolf, Autumn S Ivy, Scott Demarest, Yann Roussel, Jolita Ciapaite, Carlo W T van Roermund, Kristin D Kernohan, Ceres Kosuta, Kevin Ban, Yoko Ito, Skye McBride, Khalid Al-Thihli, Rana A Abdelrahim, Roshan Koul, Amna Al Futaisi, Charlotte A Haaxma, Heather Olson, Laufey Yr Sigurdardottir, Georgianne L Arnold, Erica H Gerkes, M Boon, M Rebecca Heiner-Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A Koolen, Erik-Jan Kamsteeg, Britt Drögemöller, Colin J Ross, Jacek Majewski, Megan T Cho, Amber Begtrup, Wyeth W Wasserman, Tuan Bui, Elise Brimble, Sara Violante, Sander M Houten, Ron A Wevers, Martijn van Faassen, Ido P Kema, Nathalie Lepage, Care4Rare Canada Consortium, Matthew A Lines, David A Dyment, Ronald J A Wanders, Nanda Verhoeven-Duif, Marc Ekker, Kym M Boycott, Jan M Friedman, Izabella A Pena, Clara D M van Karnebeek
Brain. 2019 Mar; 142(3): 542–559. Published online 2019 Jan 21. doi: 10.1093/brain/awy346
PMCID:
PMC6391652
AbstractArticlePDF–1.2M
10.
Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome
Mario Mastrangelo, Filippo Manti, Luisa Patanè, Stefania Ferrari, Carla Carducci, Claudia Carducci, Giovanna Mangili, Vincenzo Leuzzi
Mov Disord Clin Pract. 2018 Jul-Aug; 5(4): 446–447. Published online 2018 May 12. doi: 10.1002/mdc3.12622
PMCID:
PMC6336373
ArticlePDF–135K
11.
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
JIMD Rep. 2018; 40: 1–6. Published online 2017 Aug 31. doi: 10.1007/8904_2017_54
PMCID:
PMC6122029
AbstractArticlePDF–247K
12.
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 Verbeek, Michèl Willemsen, Thomas Opladen
Orphanet J Rare Dis. 2017; 12: 12. Published online 2017 Jan 18. doi: 10.1186/s13023-016-0522-z
PMCID:
PMC5241937
AbstractArticlePDF–1.0M
13.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
14.
Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?
Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. van Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, Nico G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci
JIMD Rep. 2015; 15: 39–45. Published online 2014 May 1. doi: 10.1007/8904_2014_295
PMCID:
PMC4270864
AbstractArticlePDF–227K

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