PMC Articles for MedGen (Select 220945) - PMC

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

Genes (Basel) 2024 Jan; 15(1): 134. Published online 2024 Jan 21. doi: 10.3390/genes15010134

PMCID:: PMC10815063

Abstract Article PDF–441K

Select item 107926785.

Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]

Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani

Mol Genet Metab Rep. 2022 Dec; 33: 100943. Published online 2022 Nov 23. doi: 10.1016/j.ymgmr.2022.100943

Corrects:: Mol Genet Metab Rep. 2021 Jun; 27: 100744.

PMCID:: PMC10792678

Correction PDF–228K

Select item 107721936.

Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report

Liene Thys, Marije Meuwissen, Katrien Janssens, Diane Beysen

Heliyon. 2024 Jan 15; 10(1): e23746. Published online 2023 Dec 16. doi: 10.1016/j.heliyon.2023.e23746

PMCID:: PMC10772193

Abstract Article PDF–357K

Select item 107297697.

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini

Front Neurol. 2023; 14: 1284339. Published online 2023 Dec 5. doi: 10.3389/fneur.2023.1284339

PMCID:: PMC10729769

Abstract Article PDF–1.0M

Select item 106116068.

Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study

Claire L. Simons, Wuh-Liang Hwu, Rongrong Zhang, Martijn J. H. G. Simons, Mats Bergkvist, Craig Bennison

Adv Ther. 2023; 40(12): 5399–5414. Published online 2023 Oct 6. doi: 10.1007/s12325-023-02689-6

PMCID:: PMC10611606

Abstract Article PDF–1.1M

Select item 105305739.

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

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

Genes (Basel) 2023 Sep; 14(9): 1828. Published online 2023 Sep 21. doi: 10.3390/genes14091828

PMCID:: PMC10530573

Abstract Article PDF–235K

Select item 1049450810.

Aromatic l‐amino acid decarboxylase deficiency in Taiwan

Wuh‐Liang Hwu, Rai‐Hseng Hsu, Mei‐Hsin Li, Hui‐Min Lee, Hui‐An Chen, Ni‐Chung Lee, Yin‐Hsiu Chien

JIMD Rep. 2023 Sep; 64(5): 387–392. Published online 2023 Aug 2. doi: 10.1002/jmd2.12387

PMCID:: PMC10494508

Abstract Article PDF–872K

Select item 1038291411.

Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency

Giovanni Bisello, Rui P. Ribeiro, Massimiliano Perduca, Benny Danilo Belviso, Patrizia Polverino de' Laureto, Alejandro Giorgetti, Rocco Caliandro, Mariarita Bertoldi

Protein Sci. 2023 Aug; 32(8): e4732. Published online 2023 Aug 1. doi: 10.1002/pro.4732

PMCID:: PMC10382914

Abstract Article PDF–5.4M

Select item 1025762412.

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

Musaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, Khalid Hundallah, Jehan Suleiman, Tawfeg Ben-Omran, Majid Alfadhel, Mohammed Almannai, Rehab Alsaleh, Brahim Tabarki

Eur J Pediatr. 2023; 182(6): 2535–2545. Published online 2023 Mar 16. doi: 10.1007/s00431-023-04886-5

Correction in:: Eur J Pediatr. 2023; 182(6): 2547–2548.

PMCID:: PMC10257624

Abstract Article PDF–1.8M

Select item 1018700913.

Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency

Marie‐Céline François‐Heude, Gaetan Poulen, Emmanuel Flamand Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Isabelle Roch‐Toreilles, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Gilles Cambonie, Julien Baleine, Chrystelle Sola, Bénédicte Delye, Evgenia Dimopoulou, Stéphanie Sanchez, Mathieu Gasnier, Souad Touati, Alberto Zamora, Daniel Pontal, Nicolas Leboucq, Virginie Kouyoumdjian, Adrien Lebasnier, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie

Mov Disord Clin Pract. 2023 May; 10(5): 811–818. Published online 2023 Feb 24. doi: 10.1002/mdc3.13685

PMCID:: PMC10187009

Abstract Article PDF–3.2M

Select item 997925914.

Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2022) page 1–4].

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

Mol Genet Metab Rep. 2023 Mar; 34: 100945. Published online 2022 Dec 7. doi: 10.1016/j.ymgmr.2022.100945