Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report

被引：3
|
作者：
Rose, Laura [1 ]
Hall, Katherine [1 ]
Tang, Sha [2 ]
Hasadsri, Linda [3 ]
Kimonis, Virginia [1 ]
机构：
[1] Univ Calif Irvine, Dept Pediat, Irvine, CA 92717 USA
[2] AmbryIrvine, Irvine, CA USA
[3] Mayo Clin, Div Lab Genet & Genom, Dept Lab Med & Pathol, Rochester, MN USA
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2020年 / 189卷
关键词：
Hereditary spastic paraplegia; Glutaric acidemia; FORM;
D O I：
10.1016/j.clineuro.2019.105553
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页数：4
相关论文
共 50 条
  • [1] Glutaric Acidemia Type 1: A Case Report
    Banikazemi, Zarin
    Mazidi, Mohsen
    Nematy, Mohsen
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2014, 2 (01): : 97 - 99
  • [2] GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN
    Noor, Noshaba
    Waseem, Hira
    KHYBER MEDICAL UNIVERSITY JOURNAL-KMUJ, 2022, 14 (01): : 71 - 73
  • [3] GLUTARIC ACIDEMIA TYPE 1: A CASE SERIES
    Felton, H.
    Schwenk, K.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2013, 61 (02) : 420 - 420
  • [4] Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population Clinical investigation
    Boraska, Vesna
    Torlak, Vesela
    Skrabic, Veselin
    Kacic, Zrinka
    Jaksic, Jasminka
    Stipancic, Gordana
    Uroic, Anita Spehar
    Markotic, Anita
    Zemunik, Tatijana
    CLINICAL BIOCHEMISTRY, 2009, 42 (09) : 819 - 822
  • [5] GLUTARIC ACIDEMIA TYPE-II - HETEROGENEITY OF CLINICAL AND BIOCHEMICAL PHENOTYPES
    LOEHR, JP
    GOODMAN, SI
    FRERMAN, FE
    PEDIATRIC RESEARCH, 1990, 27 (03) : 311 - 315
  • [6] GLUTARIC ACIDEMIA TYPE-II - CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC CONSIDERATIONS
    GOODMAN, SI
    STENE, DO
    MCCABE, ERB
    NORENBERG, MD
    SHIKES, RH
    STUMPF, DA
    BLACKBURN, GK
    JOURNAL OF PEDIATRICS, 1982, 100 (06): : 946 - 950
  • [7] Glutaric acidemia type 1: Clinical and biochemical profile in Tunisian infants
    Esseghir, N.
    Tebib, N.
    Menif, O.
    Sanhaji, H.
    Elasmi, M.
    Feki, M.
    Ben Dridi, M. F.
    Mebazaa, A.
    Kaabachi, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 37 - 37
  • [8] Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort
    Funk, CBR
    Prasad, AN
    Frosk, P
    Sauer, S
    Kölker, S
    Greenberg, CR
    Del Bigio, MR
    BRAIN, 2005, 128 : 711 - 722
  • [9] A compound heterozygous mutation in B4GALNT1 causes axonal Charcot-Marie-Tooth disease
    Park, H.
    Lee, S.
    Choi, Y.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S122 - S122
  • [10] Glutaric acidemia type I. Report of a case and literature review
    Forero Sanchez, Edwin
    Echeverri Pena, Olga Yaneth
    Espinosa Garcia, Eugenia
    Guevara Morales, Johana Maria
    Barrera Avellaneda, Luis Alejandro
    IATREIA, 2015, 28 (02) : 193 - 197
12345