未登录 TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis TfR1缺乏超越联合免疫缺陷。线粒体功能和铁硫簇生物合成在疾病发病机制中的关键作用 Munoz-Pujol, Gerard; Huisman, Elise J.; Mesa, Juan-Francisco; Joosten, Marieke; Devos, Annick; Fernandez-Burriel, Miguel; Ugarteburu, Olatz; Segur-Bailach, Eulalia; Gea-Sorli, Sabrina; Moliner, Sonia; Farre-Tarrats, Laia; Guitart-Mampel, Mariona; Arauz-Garofalo, Gianluca; Gay, Marina; Villamor, Neus; Martin, Gemma; Calvo, Maria; Garrabou, Gloria; Macias, Maria J.; Gort, Laura; Garcia-Villoria, Judit; Fillat, Cristina; Tort, Frederic; Ribes, Antonia 分享 收藏
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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio 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
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report Pane, Adriana; Carrasco-Serrano, Marcos; Milad, Camila; Leyes, Pere; Moreno-Lozano, Pedro Juan; Ventura, Roser; Milisenda, Jose Cesar; Garcia-Garcia, Francesc Josep; Garrabou, Gloria; Garcia-Villoria, Judit; Lopez-Galera, Rosa Maria; Ribes, Antonia; Grau-Junyent, Josep Maria; Forga-Visa, Maria de Tallo; Montserrat-Carbonell, Cristina 分享 收藏
implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns (vol 16, 195, 2021) Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia 分享 收藏
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency Leigh综合征是PTCD3缺乏症的主要临床特征 Munoz-Pujol, Gerard; Ortigoza-Escobar, Juan D.; Paredes-Fuentes, Abraham J.; Jou, Cristina; Ugarteburu, Olatz; Gort, Laura; Yubero, Delia; Garcia-Cazorla, Angels; O'Callaghan, Mar; Campistol, Jaume; Muchart, Jordi; Yepez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic 分享 收藏
Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle 卡路里限制可挽救Adck2-Deficient骨骼肌的线粒体功能障碍 Diego Hernandez-Camacho, Juan; Fernandez-Ayala, Daniel J. M.; Vicente-Garcia, Cristina; Navas-Enamorado, Ignacio; Lopez-Lluch, Guillermo; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; de Cabo, Rafael; Carvajal, Jaime J.; Navas, Placido 分享 收藏
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease Segur-Bailach, Eulalia; Ugarteburu, Olatz; Tort, Frederic; Texido, Laura; Painous, Celia; Compta, Yaroslau; Jose Marti, Maria; Ribes, Antonia; Gort, Laura 分享 收藏
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency 肌苷三磷酸焦磷酸酶 (ITPase) 缺乏症引起的发育性和癫痫性脑病的临床放射学特征，分子光谱和预后因素的鉴定 Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B.; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G.; Yildiz, Yilmaz; Ceylan, Ahmet C.; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B.; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S.; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A.; Alshwameen, Meznah O.; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H.; AlRasheed, Maha M.; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A.; Cazorla, M. Angeles Garcia; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P.; Taylor, Jenny C.; Alsaif, Hessa S.; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Striano, Pasquale; Alkuraya, Fowzan S.; Zaki, Maha S.; Gleeson, Joseph G.; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S.; Maroofian, Reza; Houlden, Henry 分享 收藏
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. 分享 收藏
Newborn Screening for SCID: Experience in Spain (Catalonia) SCID的新生儿筛查: 西班牙 (加泰罗尼亚) 的经验 Argudo-Ramirez, Ana; Martin-Nalda, Andrea; Gonzalez De Aledo-Castillo, Jose Manuel; Lopez-Galera, Rosa; Luis Marin-Soria, Jose; Pajares-Garcia, Sonia; Martinez-Gallo, Monica; Garcia-Prat, Marina; Colobran, Roger; Riviere, Jacques G.; Quintero, Yania; Collado, Tatiana; Ribes, Antonia; Garcia-Villoria, Judit; Soler-Palacin, Pere 分享 收藏
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia 分享 收藏
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution NDUFA8中的双等位基因突变导致两个兄弟姐妹的复合物I缺乏，具有良好的临床进化 Tort, Frederic; Barredo, Estibaliz; Parthasarathy, Ranjani; Ugarteburu, Olatz; Ferrer-Cortes, Xenia; Garcia-Villoria, Judit; Gort, Laura; Gonzalez-Quintana, Adrian; Martin, Miguel A.; Fernandez-Vizarra, Erika; Zeviani, Massimo; Ribes, Antonia 分享 收藏
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