1. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019) Authors: Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022) Authors: 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, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Issue 2 (16th August 2020) Authors: Marti‐Sanchez, Laura; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Pons, Roser; Skouma, Anastasia; López‐Laso, Eduardo; Sigatullina, Maria; Rizzo, Cristiano; Semeraro, Michela; Martinelli, Diego; Carrozzo, Rosalba; Dionisi‐Vici, Carlo; González‐Gutiérrez‐Solana, Luis; Correa‐Vela, Marta; Ortigoza‐Esco... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Differential diagnosis of lipoic acid synthesis defects. Issue 6 (1st September 2016) Authors: Tort, Frederic; Ferrer‐Cortes, Xènia; Ribes, Antonia Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 6(2016) Page Start: 781 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. Issue 6 (14th November 2018) Authors: García‐Villoria, Judit; De Azua, Begoña; Tort, Frederic; Mosegaard, Signe; Ugarteburu, Olatz; Texidó, Laura; Morales‐Romero, Blai; Olsen, Rikke K.J.; Ribes, Antonia Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 592 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. HACE1 builds molecular crosstalks between rare diseases and (more) common disorders. Issue 6 (9th June 2022) Authors: Tort, Frederic Journal: Clinical and translational medicine Issue: Volume 12:Issue 6(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management. Issue 1 (15th September 2020) Authors: Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; ... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lipoic acid biosynthesis defects. Issue 4 (29th April 2014) Authors: Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 4(2014) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Issue 10 (17th May 2019) Authors: Tort, Frederic; Ugarteburu, Olatz; Texidó, Laura; Gea‐Sorlí, Sabrina; García‐Villoria, Judit; Ferrer‐Cortès, Xènia; Arias, Ángela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart‐Mampel, Mariona; Garrabou, Glòria; Vaz, Frederick M; Pristoupilova, Ana; Rodríguez, María Isabel Esteban; Belt... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1700 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Issue 2 (26th November 2016) Authors: Matalonga, Leslie; Bravo, Miren; Serra‐Peinado, Carla; García‐Pelegrí, Elisabeth; Ugarteburu, Olatz; Vidal, Silvia; Llambrich, Maria; Quintana, Ester; Fuster‐Jorge, Pedro; Gonzalez‐Bravo, Maria Nieves; Beltran, Sergi; Dopazo, Joaquin; Garcia‐Garcia, Francisco; Foulquier, François; Matthijs, Gert;... Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗