Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

por Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih
Publicado 2022

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

por Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C. Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida
Publicado 2023

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

por Almeida, Ligia S., Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C. L. S., Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M., Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B., Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, Bauer, Peter
Publicado 2022