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Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry 理解尿素循环障碍的自然史及当前治疗策略对其的影响：来自UCD西班牙登记研究的见解 Martin-Hernandez, Elena; Bellusci, Marcello; Perez-Mohand, Patricia; Medina, Patricia Correcher; Blasco-Alonso, Javier; Morais-Lopez, Ana; de las Heras, Javier; Olivas, Silvia Maria Meavilla; Dougherty-de Miguel, Lucy; Couce, Maria Luz; Villarroya, Elvira Canedo; Jimenez, Maria Concepcion Garcia; Moreno-Lozano, Pedro Juan; Vives, Inmaculada; Gil-Campos, Mercedes; Stanescu, Sinziana; Ceberio-Hualde, Leticia; Camprodon, Maria; Cortes-Saladelafont, Elisenda; Lopez-Urdiales, Rafael; Hurtado, Mercedes Murray; Armenteros, Ana Maria Marquez; Corcoles, Concha Sierra; Pena-Quintana, Luis; Ruiz-Pons, Monica; Alcalde, Carlos; Castellanos-Pinedo, Fernando; Dios, Elena; Barrio-Carreras, Delia; Martin-Cazana, Maria; Garcia-Peris, Monica; Andrade, Jose David; Garcia-Volpe, Camila; de los Santos, Mariela; Garcia-Cazorla, Angels; del Toro, Mireia; Felipe-Rucian, Ana; Monroy, Maria Jose Comino; Sanchez-Pintos, Paula; Matas, Ana; Ortega, David Gil; Martin-Rivada, Alvaro; Bergua, Ana; Belanger-Quintana, Amaya; Vitoria, Isidro; Yahyaoui, Raquel; Perez, Belen; Morales-Conejo, Montserrat; Quijada-Fraile, Pilar 分享 收藏
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission spermidine Treatment Improves GRIN2B Loss-Of-Function，A Primary Disorder of Glutamatergic Neurotransmission Santos-Gomez, A.; Julia-Palacios, N.; Rejano-Bosch, A.; Mari-Vico, R.; Miguez-Cabello, F.; Masana, M.; Soto, D.; Olivella, M.; Garcia-Cazorla, A.; Altafaj, X. 分享 收藏
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism Latzer, Itay Tokatly; Hanson, Ellen; Bertoldi, Mariarita; Dibacco, Melissa L.; Aygun, Deniz; Afacan, Onur; Garcia-Cazorla, Angeles; Julia-Palacios, Natalia; Opladen, Thomas; Hubschmann, Oya Kuseyri; Jeltsch, Kathrin; Aden, Petra; Oppeboen, Mari; Rotenberg, Alexander; Tsuboyama, Melissa; Roullet, Jean-Baptiste; Pearl, Phillip L. 分享 收藏
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Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication 大量儿科人群中的脑脊液同型香草酸和5-羟吲哚乙酸; 参考区间的建立以及疾病和药物的影响 Rodriguez-Gonzalez, Helena; Ormazabal, Aida; Casado, Mercedes; Arias, Angela Y.; Oliva, Clara; Barranco-Altirriba, Maria; Casadevall, Ricard; Garcia-Cuyas, Francesc; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Armangue, Thais; O'Callaghan, Maria M.; Julia-Palacios, Natalia; Darling, Alejandra; Ortigoza-Escobar, Juan Dario; Fons, Carmen; Garcia-Cazorla, Angels; Perera-Lluna, Alexandre; Artuch, Rafael 分享 收藏
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing 基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要 Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic 分享 收藏
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L. 分享 收藏
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H. C.; Bertoldi, Mariarita; McGinty, Gabrielle E.; DiBacco, Melissa L.; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Julia-Palacios, Natalia; Gibson, K. Michael; Sahin, Mustafa; Pearl, Phillip L. 分享 收藏
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment GEMIN5突变与辅酶Q10缺乏症相关: 治疗后的长期随访 Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael 分享 收藏
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants Latzer, Itay Tokatly; Roullet, Jean-Baptiste; Cesaro, Samuele; DiBacco, Melissa L.; Arning, Erland; Rotenberg, Alexander; Lee, Henry H. C.; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Julia-Palacios, Natalia; Gibson, K. Michael; Bertoldi, Mariarita; Pearl, Phillip L. 分享 收藏
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome 雷格列酮的线粒体调节可作为Rett综合征的潜在治疗方法 Musokhranova, Uliana; Grau, Cristina; Vergara, Cristina; Rodriguez-Pascau, Laura; Xiol, Clara; Castells, Alba A.; Alcantara, Soledad; Rodriguez-Pombo, Pilar; Pizcueta, Pilar; Martinell, Marc; Garcia-Cazorla, Angels; Oyarzabal, Alfonso 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023) Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Melodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; Tich, Sylvie Nguyen The; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent C.; Boespflug-Tanguy, Odile; De Vivo, Darryl 分享 收藏
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