Tort, Frederic
https://orcid.org/0000-0003-2733-1603
Mayo Clinic
Centre for Biomedical Network Research on Rare Diseases
Citations 3
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Scala, Marcello , Wortmann, Saskia B. , Kaya, Namik , Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, 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. Ángeles García, 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, Knaap, Marjo S. van der , Maroofian, Reza, Houlden, Henry, Houlden, Henry , Issa, Mahmoud Y. , Tort, Frederic , Efthymiou, Stéphanie , Bierau, Jörgen , Barakat, Tahsin Stefan , Maroofian, Reza , Ribes, Antonia , Alkuraya, Fowzan S , van der Knaap, Marjo S , Houlden, Henry , Maroofian, Reza , Scala, Marcello , Wortmann, Saskia , Kaya, Namik , Stellingwerff, Menno D., Pistorio, Angela , Glamuzina, Emma, Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya , Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham , Karimiani, Ehsan G., Yıldız, Yılmaz , Ceylan, Ahmet Cevdet , 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, Hargan, A. Al , Alwadei, Ali H., AlRasheed, Maha M., Çolak, Dilek , Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., Cazorla, M. Ángeles García, 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, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Zaki, Maha S., Gleeson, Joseph G.
Human Mutation | January 6, 2022 | Volume: 43 | Issue: 3 | Pages: 403-419
International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
Altassan, Ruqaiah , Radenkovic, Silvia , Edmondson, Andrew C. , Barone, Rita , Brasil, Sandra , Čechová, Anna , Coman, David , Donoghue, Sarah , Falkenstein, Kristina , Ferreira, Vanessa dos Reis , Fiumara, Agata , Francisco, Rita , Grünewald, Stephanie , Jaeken, Jaak , Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Pascoal, Carlota , Quelhas, Dulce , Raymond, Kimiyo , Rymen, Daisy , Seroczyńska, Małgorzata, Serrano, Mercedes , Thiel, Christian , Tort, Frederic , Vals, Mari‐Anne , Videira, Paula A. , Raymond, Kimiyo M, Donoghue, Sarah E , Edmondson, Andrew C , Pascoal, Carlota , Videira, Paula A , Ferreira, Carlos R , Freeze, Hudson H. , Honzík, Tomáš , Lee, Joy Li-Yueh , Sykut‐Cegielska, Jolanta , Voermans, Nicol Cornelia , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | July 18, 2020 | Volume: 44 | Issue: 1 | Pages: 148-163
Abstract Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1‐CDG. PGM1‐CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life‐threatening cardiomyopathy. Unlike most other CDG, PGM1‐CDG has an effective treatment option, d ‐galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1‐CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow‐up, and management guidelines for PGM1‐CDG. These guidelines are based on the best available evidence‐based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1‐CDG patients.
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
Altassan, Ruqaiah , Péanne, Romain , Jaeken, Jaak , Barone, Rita , Bidet, Muad, Borgel, Delphine , Brasil, Sandra , Cassiman, David , Čechová, Anna , Coman, David , Corral, Javier , Correia, Joana , Lonlay, Pascale de , Reis, Vanessa dos , Fiumara, Agata , Francisco, Rita , Funke, Simone, Gardeitchik, Thatjana , Matthijs, Gert , Girad, Muriel, Grünewald, Stephanie , Hernández‐Caselles, Trinidad , Hutter, Marlen, Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Martínez‐Monseny, Antonio Federico , Moravej, Hossein , Õunap, Katrin , Pascoal, Carlota , Pascreau, Tiffany , Quelhas, Dulce , Raymond, Kimiyo , Sarkhail, Peymaneh, Schiff, Manuel , Seroczyńska, Małgorzata, Serrano, Mercedes , Séta, Nathalie , Sykut‐Cegielska, Jolanta , Thiel, Christian , Tort, Federic, Vals, Mari‐Anne , Videira, Paula A. , Zeevaert, Renate , Tort, Frederic , Patterson, Marc, Pascoal, Carlota , Videira, Paula A , Õunap, Katrin , Morena‐Barrio, María Eugenia de la , Ferreira, Carlos R , Freeze, Hudson H. , Girós, Marisa , Honzík, Tomáš , Lee, Joy Li-Yueh , Patterson, Marc C. , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | February 11, 2019 | Volume: 42 | Issue: 1 | Pages: 5-28
Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2‐CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence‐based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2‐CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2‐CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2‐CDG patients.