نتائج البحث

1

دورية أكاديمية

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

المؤلفون: Spagnoli, Carlotta, Battini, Roberta, Manti, Filippo, Cordelli, Duccio Maria, Pession, Andrea, Bellini, Melissa, Bordugo, Andrea, Cantalupo, Gaetano, Riva, Antonella, Striano, Pasquale, Spada, Marco, Porta, Francesco, Fusco, Carlo

المساهمون: Spagnoli, Carlotta, Battini, Roberta, Manti, Filippo, Cordelli, Duccio Maria, Pession, Andrea, Bellini, Melissa, Bordugo, Andrea, Cantalupo, Gaetano, Riva, Antonella, Striano, Pasquale, Spada, Marco, Porta, Francesco, Fusco, Carlo

مصطلحات موضوعية: AADC, 3-OMD, parkinsonism-dystonia

العلاقة: volume:2024; firstpage:1; lastpage:7; numberofpages:7; journal:BEHAVIOURAL NEUROLOGY; https://hdl.handle.net/11573/1709153Test

الإتاحة: https://doi.org/10.1155/2024/1023861Test
https://hdl.handle.net/11573/1709153Test

View record in BASE

2

دورية أكاديمية

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

المؤلفون: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100888- (2022)

مصطلحات موضوعية: Aromatic l-amino acid decarboxylase (AADC), AADC deficiency, DDC gene, 3-ortho-methyl-dopa (3-OMD), Dopamine, Tandem mass spectrometry, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000489Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/a1d507af4e944e219f4ad7abb6ceaf12Test

View record in DOAJ

النص الكامل

3

دورية أكاديمية

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

المؤلفون: Civallero, Gabriel Eduardo Santiago, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele Barbosa, Poletto, Édina, Faqueti, Larissa Gabriela, Iop, Gabrielle Dineck, Soares, Juliano, Linden, Vanessa van der, Lourenço, Charles Marques, Giugliani, Roberto

مصطلحات موضوعية: Aromatic l-amino acid decarboxylase, AADC deficiency, DDC gene3-ortho-methyl-dopa, 3-OMD, Dopamine, Tandem mass spectrometry, Diagnóstico, Bioquímica, Plasma, Espectrometria de massas em Tandem, Cromatografia líquida

وصف الملف: application/pdf

العلاقة: Molecular genetics and metabolism reports. New York. Vol. 32 (2022), 100888, 4 p.; http://hdl.handle.net/10183/245608Test; 001145715

الإتاحة: http://hdl.handle.net/10183/245608Test

View record in BASE

النص الكامل

4

Pre- and postsynaptic dysregulation of dopamine signalling in Parkinson's disease

المؤلفون: Sahin, Gurdal

المصدر: Lund University, Faculty of Medicine Doctoral Dissertation Series MultiPark: Multidisciplinary research focused on Parkinson´s disease. 2018(93)

مصطلحات موضوعية: [18F]fallypride, 3-OMD, AAV, blood-brain barrier, dyskinesia, HVA, L-DOPA, microdialysis, modeling, Parkinson’s disease, pharmacokinetics, positron-emission tomography, prediction, RNA interference, shRNA, Medicin och hälsovetenskap, Medical and Health Sciences