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Mahsa Hojabri, Yeganeh Farsi, Mahnaz Jamee, Hassan Abolhassani, Hedieh Haji Khodaverdi Khani, Abdollah Karimi, Mehrnaz Mesdaghi, Zahra Chavoshzadeh, Samin Sharafian
BMC pediatrics 2023;23(1):206
Jing Wang, Haitao Zhang, Yu Wang, Lei Liang, Zeyu Yang
Medicine 2022;101(44):e31357
Özlem Ünal Uzun, Müge Çınar, Meral Bahar İster, Merve Eşgi, Bülent Kara, Özge Serçe Pehlevan
Neuropediatrics 2025;56(3):208-212
Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb
Journal of medical case reports 2021;15(1):441
Kenji Yamada, Takeshi Taketani
Journal of human genetics 2019;64(2):73-85
Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews
Orphanet journal of rare diseases 2022;17(1):360
A Stembridge, P Splett, R H Singh, S C Van Calcar, M Sowa, F Rohr, J Beazer, T Setlock, T U Weihe, S Pendyal, L S Wallace, J G Hansen
Molecular genetics and metabolism 2021;131(1-2):23-37
Francesca Basso-Valentina, Gabriel Levy, Leila N Varghese, Myriam Oufadem, Benedicte Neven, Charlotte Boussard, Nathalie Balayn, Caroline Marty, William Vainchenker, Isabelle Plo, Paola Ballerini, Stefan N Constantinescu, Remi Favier, Hana Raslova
Blood 2021;138(6):480-485
Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra
Journal of pediatric endocrinology & metabolism : JPEM 2018;31(3):297-304
Jesper H Storgaard, Nicoline Løkken, Karen L Madsen, Nicol C Voermans, Pascal Laforêt, Aleksandra Nadaj-Pakleza, Céline Tard, Gerrit van Hall, John Vissing, Mette C Ørngreen
Journal of inherited metabolic disease 2022;45(3):517-528
Amal Alhashem, Sarar Mohamed, Manal Abdelraheem, Bushra AlGufaydi, Aida Al-Aqeel
Saudi medical journal 2020;41(6):590-596
Suzan J G Knottnerus, Isabella Mengarelli, Rob C I Wüst, Antonius Baartscheer, Jeannette C Bleeker, Ruben Coronel, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Wener Li, Xiaojing Luo, Vincent M Portero, Ying Ulbricht, Gepke Visser, Ronald J A Wanders, Frits A Wijburg, Arie O Verkerk, Riekelt H Houtkooper, Connie R Bezzina
International journal of molecular sciences 2020;21(7):2589
Irina Monnard, Karine Redeuil, Melanie B Gillingham, Cary O Harding, Bernard Cuenoud, Ashley N Gregor, Philippe Delerive
Molecular genetics and metabolism 2025;144(4):109070
Jeannette C Bleeker, Gepke Visser, Kieran Clarke, Sacha Ferdinandusse, Ferdinand H de Haan, Riekelt H Houtkooper, Lodewijk IJlst, Irene L Kok, Mirjam Langeveld, W Ludo van der Pol, Monique G M de Sain-van der Velden, Anita Sibeijn-Kuiper, Tim Takken, Ronald J A Wanders, Michel van Weeghel, Frits A Wijburg, Luc H van der Woude, Rob C I Wüst, Pete J Cox, Jeroen A L Jeneson
Journal of inherited metabolic disease 2021;43(4):787-799
Kazumichi Furuyama, Kiriko Kaneko
International journal of hematology 2018;107(1):44-54
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