Editorial: Inborn errors of carbohydrate metabolism

被引:0
作者
Martinez-Duncker, Ivan [1 ]
Doederlein-Schwartz, Ida Vanessa [2 ]
Abreu-Gonzalez, Melania [3 ]
Garcia-Ortiz, Jose Elias [4 ]
机构
[1] Univ Autonoma Estado Morelos, Ctr Invest Dinam Celular, Lab Glicobiol Humana & Diagnost Mol, Inst Invest Ciencias Bas & Aplicadas, Cuernavaca, Mexico
[2] Univ Fed Rio Grande Sul UFRGS, Dept genet, Porto Alegre, Brazil
[3] Mexico Ctr Med ABC, Genos Med Ctr Especializado Genet, Mexico City, Mexico
[4] Inst Mexicano Seguro Social IMSS, Div Genet, Ctr Invest Biomed Occidente CMNO, Ctr Med Nacl Occidente, Guadalajara, Mexico
关键词
CDG (congenital disorder of glycosylation); lysosomal storage disease; Pompe (glycogen storage disease type 2 / II); diabetes mellitus; rare disease (RD); ERT (enzyme replacement therapy); adult polyglucosan body disease (APBD); metabolism;
D O I
10.3389/fgene.2024.1430414
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:4
相关论文
共 10 条
[1]   CDG biochemical screening: Where do we stand? [J].
Bruneel, Arnaud ;
Cholet, Sophie ;
Thuy Tran, N. ;
Thanh Duc Mai ;
Fenaille, Francois .
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2020, 1864 (10)
[2]   Including diverse and admixed populations in genetic epidemiology research [J].
Caliebe, Amke ;
Tekola-Ayele, Fasil ;
Darst, Burcu F. ;
Wang, Xuexia ;
Song, Yeunjoo E. ;
Gui, Jiang ;
Sebro, Ronnie A. ;
Balding, David J. ;
Saad, Mohamad ;
Dube, Marie-Pierre .
GENETIC EPIDEMIOLOGY, 2022, 46 (07) :347-371
[3]   Avalglucosidase alfa: First Approval [J].
Dhillon, Sohita .
DRUGS, 2021, 81 (15) :1803-1809
[4]  
Filocamo Mirella, 2011, Human Genomics, V5, P156
[5]   Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease [J].
Kishnani, P. S. ;
Corzo, D. ;
Nicolino, M. ;
Byrne, B. ;
Mandel, H. ;
Hwu, W. L. ;
Leslie, N. ;
Levine, J. ;
Spencer, C. ;
McDonald, M. ;
Li, J. ;
Dumontier, J. ;
Halberthal, M. ;
Chien, Y. H. ;
Hopkin, R. ;
Vijayaraghavan, S. ;
Gruskin, D. ;
Bartholomew, D. ;
van der Ploeg, A. ;
Clancy, J. P. ;
Parini, R. ;
Morin, G. ;
Beck, M. ;
De la Gastine, G. S. ;
Jokic, M. ;
Thurberg, B. ;
Richards, S. ;
Bali, D. ;
Davison, M. ;
Worden, M. A. ;
Chen, Y. T. ;
Wraith, J. E. .
NEUROLOGY, 2007, 68 (02) :99-109
[6]   Why rare disease needs precision medicine-and precision medicine needs rare disease [J].
Might, Matthew ;
Crouse, Andrew B. .
CELL REPORTS MEDICINE, 2022, 3 (02)
[7]   Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review [J].
Ohno, Kinji ;
Ohkawara, Bisei ;
Shen, Xin-Ming ;
Selcen, Duygu ;
Engel, Andrew G. .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (04)
[8]   Congenital disorders of glycosylation: Still "hot" in 2020 [J].
Ondruskova, Nina ;
Cechova, Anna ;
Hansikova, Hana ;
Honzik, Tomas ;
Jaeken, Jaak .
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2021, 1865 (01)
[9]   From target discovery to clinical drug development with human genetics [J].
Trajanoska, Katerina ;
Bherer, Claude ;
Taliun, Daniel ;
Zhou, Sirui ;
Richards, J. Brent ;
Mooser, Vincent .
NATURE, 2023, 620 (7975) :737-745
[10]  
Witters P., 2021, Liver disease in children, V5, P455, DOI [10.1017/9781108918978.027, DOI 10.1017/9781108918978.027]