A NOVEL NON-NEUROLOGICAL CONGENITAL DISORDER OF GLYCOSYLATION CAUSED BY MUTATIONS IN THE PHOSPHOGLUCOMUTASE 1 GENE

被引:0
|
作者
Perez, B. [1 ]
Medrano, C. [1 ]
Ecay, M. J. [1 ]
Ruiz Sala, P. [1 ]
Martinez-Pardo, M. [2 ]
Ugarte, M. [1 ]
Perez-Cerda, C. [1 ]
机构
[1] Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain
[2] U Enf Metab S Pediatr H Ramon & Cajal, Madrid, Spain
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S111 / S111
页数:1
相关论文
共 50 条
  • [21] Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
    Zilmer, Monica
    Edmondson, Andrew C.
    Khetarpa, Sumeet A.
    Alesi, Viola
    Zaki, Maha S.
    Rostasy, Kevin
    Madsen, Camilla G.
    Lepri, Francesca R.
    Sinibaldi, Lorenzo
    Cusmai, Raffaella
    Novelli, Antonio
    Issa, Mahmoud Y.
    Fenger, Christina D.
    Abou Jamra, Rami
    Reutter, Heiko
    Briuglia, Silvana
    Agolini, Emanuele
    Hansen, Lars
    Petaja-Repo, Ulla E.
    Hintze, John
    Raymond, Kimiyo M.
    Liedtke, Kristen
    Stanley, Valentina
    Musaev, Damir
    Gleeson, Joseph G.
    Vitali, Cecilia
    O'Brien, W. Timothy
    Gardella, Elena
    Rubboli, Guido
    Rader, Daniel J.
    Schjoldager, Katrine T.
    Moller, Rikke S.
    BRAIN, 2020, 143 : 1114 - 1126
  • [22] Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
    Mahajan, Sonal
    Ng, Bobby George
    AlAbdi, Lama
    Earnest, Paul Daniel James
    Sosicka, Paulina
    Patel, Nisha
    Helaby, Rana
    Abdulwahab, Firdous
    He, Miao
    Alkuraya, Fowzan S.
    Freeze, Hudson H.
    JOURNAL OF MEDICAL GENETICS, 2023, 60 (07) : 627 - 635
  • [23] A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review
    Xue, Yan
    Zhao, Yiran
    Wu, Bo
    Shu, Jianbo
    Yan, Dandan
    Li, Dong
    Yu, Xiaoli
    Cai, Chunquan
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (08):
  • [24] Novel OGT gene variant leading to OGT-associated congenital disorder of glycosylation syndrome
    Erhardt, Julia Krisztina
    Nemeth, Krisztina
    Pallinger, Eva
    Fekete, Gyorgy
    Kovacs, Arpad Ferenc
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1042 - 1042
  • [25] Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
    Yang, Amy C.
    Ng, Bobby G.
    Moore, Steven A.
    Rush, Jeffrey
    Waechter, Charles J.
    Raymond, Kimiyo M.
    Willer, Tobias
    Campbell, Kevin P.
    Freeze, Hudson H.
    Mehta, Lakshmi
    MOLECULAR GENETICS AND METABOLISM, 2013, 110 (03) : 345 - 351
  • [26] Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation
    Jaeken, Jaak
    Lefeber, Dirk
    Matthijs, Gert
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (12) : e1 - e3
  • [27] Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
    Jaeken, Jaak
    Lefeber, Dirk
    Matthijs, Gert
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (10) : E1 - E3
  • [28] Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation
    Jaak Jaeken
    Dirk Lefeber
    Gert Matthijs
    European Journal of Human Genetics, 2015, 23 : 1 - 3
  • [29] Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
    Jaak Jaeken
    Dirk Lefeber
    Gert Matthijs
    European Journal of Human Genetics, 2015, 23 : 1431 - 1431
  • [30] CONGENITAL NEUROICHTHYOSIS CAUSED BY NOVEL HETEROZYGOUS MUTATIONS IN THE ALDH3A2 GENE
    Galvin-Parton, P. A.
    Ziskind, D.
    Weiss, J.
    Kristal, L.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 140 - 140