日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis

不明原因高铁蛋白血症的临床外显子组测序揭示了铁稳态以外的双基因和寡基因遗传

Morel, Paul; Silva Rodriguez, Maël; Benmouffek, Cyriaque; Goksen, Betul; Chéry, Céline; Haghnejad, Vincent; Bensenane, Mouni; Feillet, François; Guéant, Jean-Louis; Namour, Farès; Bronowicki, Jean-Pierre; Oussalah, Abderrahim

Long-Term Follow-Up of Patients With Transaldolase Deficiency

转醛醇酶缺乏症患者的长期随访

Scaglione, M; Brassier, A; Wiedemann, A; Jankowska, I; Pawłowska, J; Lamireau, T; Bridoux-Henno, L; Douillard, C; Casswall, T; Cucinotta, U; Gaschignard, M; Socha, P; Feillet, F; Fischler, B; Samara-Boustani, D; Schiaffino, M C; Schiff, M; De Lonlay, P; Lacaille, F

Corrigendum to Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability [eBioMedicine 99 (2024), 104911]

对患有先天性钴胺素代谢异常患者的成纤维细胞多组学分析揭示了与临床和代谢变异性的一致性[eBioMedicine 99 (2024), 104911]的更正

Wiedemann, Arnaud; Oussalah, Abderrahim; Guéant Rodriguez, Rosa-Maria; Jeannesson, Elise; Merten, Marc; Rotaru, Irina; Alberto, Jean-Marc; Baspinar, Okan; Rashka, Charif; Hassan, Ziad; Siblini, Youssef; Matmat, Karim; Jeandel, Manon; Chery, Celine; Robert, Aurélie; Chevreux, Guillaume; Lignières, Laurent; Camadro, Jean-Michel; Feillet, François; Coelho, David; Guéant, Jean-Louis

Omega-3 Fatty Acids, Furan Fatty Acids, and Hydroxy Fatty Acid Esters: Dietary Bioactive Lipids with Potential Benefits for MAFLD and Liver Health

ω-3脂肪酸、呋喃脂肪酸和羟基脂肪酸酯:对代谢相关脂肪肝和肝脏健康具有潜在益处的膳食生物活性脂质

Merheb, Camil; Gerbal-Chaloin, Sabine; Casas, François; Diab-Assaf, Mona; Daujat-Chavanieu, Martine; Feillet-Coudray, Christine

International Survey on Phenylketonuria Newborn Screening

国际苯丙酮尿症新生儿筛查调查

Trampuž, Domen; Schielen, Peter C J I; Zetterström, Rolf H; Scarpa, Maurizio; Feillet, François; Kožich, Viktor; Tangeraas, Trine; Drole Torkar, Ana; Mlinarič, Matej; Perko, Daša; Remec, Žiga Iztok; Lampret, Barbka Repič; Battelino, Tadej; Isns Study Group On Pku; van Spronsen, Francjan J; Bonham, James R; Grošelj, Urh

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

沙丙蝶呤在苯丙氨酸羟化酶缺乏症的儿童和成人患者中的长期安全性:Kuvan®成人、母亲和儿科欧洲注册研究多国观察性研究的最终结果

Feillet, François; Arnoux, Jean-Baptiste; Delgado, María Bueno; Burlina, Alberto; Chabrol, Brigitte; Kucuksayrac, Ece; Lagler, Florian B; Muntau, Ania C; Olsson, David; Paci, Sabrina; Rutsch, Frank; van Spronsen, Francjan J

Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability

对患有先天性钴胺素代谢异常患者的成纤维细胞进行多组学分析,结果显示其与临床和代谢变异性相一致。

Arnaud Wiedemann ,Abderrahim Oussalah ,Rosa-Maria Guéant Rodriguez ,Elise Jeannesson ,Marc Merten ,Irina Rotaru ,Jean-Marc Alberto ,Okan Baspinar ,Charif Rashka ,Ziad Hassan ,Youssef Siblini ,Karim Matmat ,Manon Jeandel ,Celine Chery ,Aurélie Robert ,Guillaume Chevreux ,Laurent Lignières ,Jean-Michel Camadro ,Sébastien Hergalant ,François Feillet ,David Coelho ,Jean-Louis Guéant

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

2012 年至 2018 年欧洲苯丙酮尿症患者的血液苯丙氨酸水平:情况是否正在发生变化?

Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Bélanger-Quintana, Amaya; Burlina, Alberto; Coşkun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, François; Giżewska, Maria; Gökmen-Özel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Leśniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michał; Rocha, Júlio César; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Strączek, Kamilla; Tokatli, Ayşegül; MacDonald, Anita

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias

卡谷氨酸在丙酸尿症和甲基丙二酸尿症长期治疗中的作用

Yap, Sufin; Gasperini, Serena; Matsumoto, Shirou; Feillet, François