المؤلفون: Nagatsu, Toshiharu^{Aff1, IDs0070202302673y_cor1}

المصدر: Journal of Neural Transmission: Translational Neuroscience, Neurology and Preclinical Neurological Studies, Psychiatry and Preclinical Psychiatric Studies. 131(6):617-630

المؤلفون: Simons, Claire L., Hwu, Wuh-Liang, Zhang, Rongrong^{Aff3, IDs12325023026896_cor3}, Simons, Martijn J. H. G., Bergkvist, Mats, Bennison, Craig

المصدر: Advances in Therapy. :1-16

المؤلفون: Liene Thys, Marije Meuwissen, Katrien Janssens, Diane Beysen

المصدر: Heliyon, Vol 10, Iss 1, Pp e23746- (2024)

مصطلحات موضوعية: Neurometabolic disorder, Aromatic l-amino acid decarboxylase deficiency, AADC, Case report, Exome sequencing, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844023109546; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/df36465395864647ad5bdcf36cb4511a

المؤلفون: Helio van der Linden Jr., Christiane Cobas, Andre Felipe Pinto Duarte, Marcelo Rodrigues Masruha

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)

مصطلحات موضوعية: Aromatic L-amino acid decarboxylase deficiency, DDC gene, Oculogyric crises, Oromandibular dystonia, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=en; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/481b7e1e589c4eda95904d804f2de20f

المؤلفون: Sandro Santa Paola, Francesco Domenico Di Blasi, Eugenia Borgione, Mariangela Lo Giudice, Marika Giuliano, Rosa Pettinato, Vincenzo Di Stefano, Filippo Brighina, Antonino Lupica, Carmela Scuderi

المصدر: Genes, Vol 15, Iss 1, p 134 (2024)

مصطلحات موضوعية: AADCD, aromatic L-amino acid decarboxylase deficiency, neuromuscular defect, cognitive deficit, Sicily, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/15/1/134; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/7cfc6ce147cf447c9577d441c1c6187f

المؤلفون: Hattori, Nobutaka^Aff6, Nagatsu, Toshiharu, Section editor^Aff7, Nakashima, Akira, Section editor^Aff8

المساهمون: Riederer, Peter, editor^Aff1, Laux, Gerd, editor^Aff2, Nagatsu, Toshiharu, editor^Aff3, Le, Weidong, editor^Aff4, Riederer, Christian, editor^Aff5

المصدر: NeuroPsychopharmacotherapy. :3111-3118

المؤلفون: Susanna Rizzi, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, Laura Demuth, Duccio Maria Cordelli, Giacomo Biasucci, Daniele Frattini, Carlo Fusco

المصدر: Genes, Vol 14, Iss 9, p 1828 (2023)

مصطلحات موضوعية: AADC, Aromatic L-amino-acid decarboxylase deficiency, neurodevelopmental disorder, metabolic disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/9/1828; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/3bceafc0550f4a6a96f6db58e3963fde

المؤلفون: Smith AB, Hanbury A, Whitty JA, Beitia Ortiz de Zarate I, Hammes F, de Pouvourville G, Buesch K

المصدر: Patient Related Outcome Measures, Vol Volume 13, Pp 21-30 (2022)

مصطلحات موضوعية: aromatic l-amino acid decarboxylase deficiency, discrete choice experiment, health state utilities, health utilities, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-discrete-choice-experiment-to-derive-health-utilities-for-aromatic-2-peer-reviewed-fulltext-article-PROM; https://doaj.org/toc/1179-271X

URL الوصول: https://doaj.org/article/380087cb7b5f4894bc902a4442c0e726

المؤلفون: Hongmei Wang, Jiahong Li, Ji Zhou, Lifang Dai, Changhong Ding, Mo Li, Weixing Feng, Fang Fang, Xiaotun Ren, Xiaohui Wang

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: aromatic L-amino acid decarboxylase deficiency (AADCD), epilepsy, oculogyric crisis, DDC gene, developmental delay, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.919583/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e457d17537434b9491b0cb7cba8176ec

المؤلفون: Lokhande, Rohan V.^{Aff1, Aff2}, Dherai, Alpa J.^Aff1, Bhagure, Ganesh R., Udani, Vrajesh P., Kulkarni, Shilpa D., Ashavaid, Tester F.

المصدر: Indian Journal of Pediatrics. 88(12):1241-1243