Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

被引：0
|
作者：
Yingxuan Li
Miaomiao Wang
Zhaoyang Huang
Jing Ye
Yuping Wang
机构：
[1] Capital Medical University,Department of Neurology, Xuanwu Hospital
[2] The Beijing Key Laboratory of Neuromodulation,undefined
来源：
BMC Medical Genomics | / 15卷
关键词：
Adult-onset propionic acidemia; Neuropsychiatric symptoms; gene; Compound heterozygous mutation; Case report;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review
    Li, Yingxuan
    Wang, Miaomiao
    Huang, Zhaoyang
    Ye, Jing
    Wang, Yuping
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [2] Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
    Ji, Guang
    Liu, Yaling
    Song, Xueqin
    Li, Zhenfei
    FRONTIERS IN GENETICS, 2022, 13
  • [3] A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
    Salvatore Iacono
    Elda Del Giudice
    Alberta Leon
    Vincenzo La Bella
    Rossella Spataro
    neurogenetics, 2022, 23 : 157 - 165
  • [4] A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
    Iacono, Salvatore
    Del Giudice, Elda
    Leon, Alberta
    La Bella, Vincenzo
    Spataro, Rossella
    NEUROGENETICS, 2022, 23 (02) : 157 - 165
  • [5] ADULT-ONSET TITINOPATHY PRESENTING WITH MITOCHONDRIAL PATHOLOGY: A CASE REPORT AND REVIEW OF LITERATURE
    Sanghani, Nirav
    Gupta, Siddharth
    de-Leon, Ada Baisre
    Nogueira, John
    MUSCLE & NERVE, 2020, 62 : S34 - S34
  • [6] Adult-Onset Neuropsychiatric Symptoms as the Presenting Feature of Xeroderma Pigmentosum Group G: A Report of a Rare Case
    Saluja, Alvee
    Kaur, Harsimran
    Anees, Shahbaz
    Mendiratta, Vibhu
    Agarwal, Kiran
    Yadav, Anukriti
    Osama, Md Ali
    Ghotekar, L. H.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (06)
  • [7] Late adult-onset myotonic dystrophy presenting as endocrinopathies: A case report and literature review
    Awadalla, M.
    Patel, N.
    Dimitropoulos, I.
    DIABETIC MEDICINE, 2023, 40
  • [8] Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
    Wang, Bing-lei
    Lu, Fen-lei
    Sun, Yu-chen
    Wang, Hui-juan
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [9] Case report: - A case report on adult-onset cystic hygroma and literature review
    Alebie, Hailemariam Kassaye
    Hailu, Mezigebu Yaregal
    Biru, Melat Teklegiorgis
    Faliso, Abebe Borsamo
    Gebere, Tekalign Legese
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2024, 125
  • [10] Adult-onset nemaline myopathy - A case report and review of the literature
    Gyure, KA
    Prayson, RA
    Estes, ML
    ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 1997, 121 (11) : 1210 - 1213
12345