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
  • [41] Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation
    Jaak Jaeken
    Dirk J Lefeber
    Gert Matthijs
    European Journal of Human Genetics, 2016, 24 : 1 - 3
  • [42] Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation
    Jaeken, Jaak
    Lefeber, Dirk J.
    Matthijs, Gert
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (07) : e1 - e3
  • [43] Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review
    Wang, Jun
    Gou, Xingqing
    Wang, Xiyi
    Zhang, Jing
    Zhao, Nan
    Wang, Xiaohong
    FRONTIERS IN GENETICS, 2022, 13
  • [44] Sleep seasonality in alpha-synucleinopathies: A comparative study with non-neurological sleep disorder patients
    Bugalho, Paulo
    Meira, Bruna
    Magrico, Marta
    PARKINSONISM & RELATED DISORDERS, 2023, 116
  • [45] Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation
    Masunaga, Yohei
    Mochizuki, Mie
    Kadoya, Machiko
    Wada, Yoshinao
    Okamoto, Nobuhiko
    Fukami, Maki
    Kato, Fumiko
    Saitsu, Hirotomo
    Ogata, Tsutomu
    ENDOCRINE JOURNAL, 2021, 68 (05) : 605 - 611
  • [46] Pathogenetic mechanism of a novel neurodevelopmental disorder caused by mutations in EIPR1
    Ghosh, S.
    Sawafta, A.
    Damseh, N.
    Edvardson, S.
    Elpeleg, O.
    Bonifacino, J.
    MOLECULAR BIOLOGY OF THE CELL, 2023, 34 (02) : 1053 - 1054
  • [47] Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene
    Thakur, Seema
    Flanagan, Sarah E.
    Ellard, Sian
    Verma, I. C.
    INDIAN PEDIATRICS, 2011, 48 (09) : 733 - 734
  • [48] Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
    Ng, Bobby G.
    Lourenco, Charles M.
    Losfeld, Marie-Estelle
    Buckingham, Kati J.
    Kircher, Martin
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael J.
    Freeze, Hudson H.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (05) : 993 - 997
  • [49] Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation
    Harshman, Lyndsay A.
    Ng, Bobby G.
    Freeze, Hudson H.
    Trapane, Pamela
    Dolezal, Anna
    Brophy, Patrick D.
    Brumbaugh, Jane E.
    PEDIATRICS INTERNATIONAL, 2016, 58 (08) : 785 - 788
  • [50] Cryptogenic liver disease in four children: A novel congenital disorder of glycosylation
    Mandato, C
    Brive, LE
    Miura, Y
    Davis, JA
    Di Cosmo, N
    Lucariello, S
    Pagliardini, S
    Seo, NS
    Parenti, G
    Vecchione, R
    Freeze, HH
    Vajro, P
    PEDIATRIC RESEARCH, 2006, 59 (02) : 293 - 298