PMC Links for Books (Select 5506000) - PMC

Select item 95788801.

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

Abstract Article PDF–375K

Select item 93144842.

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

Abstract Article PDF–776K

Select item 88221323.

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

Abstract Article PDF–1.2M

Select item 82755824.

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

Abstract Article PDF–1.9M

Select item 75405295.

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

Abstract Article PDF–1.6M

Select item 74972896.

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

Abstract Article PDF–2.5M

Select item 73872427.

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

Abstract Article PDF–966K

Select item 70570928.

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

Abstract Article PDF–1.0M

Select item 63916529.

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

Abstract Article PDF–1.2M

Select item 633637310.

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

Article PDF–135K

Select item 612202911.

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

Abstract Article PDF–247K

Select item 524193712.

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

Abstract Article PDF–1.0M

Select item 454475313.

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

Abstract Article PDF–960K

Select item 427086414.

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

Abstract Article PDF–227K

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