Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

被引:0
|
作者
Yiming Lin
Wenjun Wang
Chunmei Lin
Zhenzhu Zheng
Qingliu Fu
Weilin Peng
Dongmei Chen
机构
[1] Quanzhou Maternity and Children’s Hospital,Center of Neonatal Disease Screening
[2] Hangzhou Biosan Clinical Laboratory,Department of Neonatology
[3] Quanzhou Maternity and Children’s Hospital,undefined
关键词
Glutaric acidemia type 1; newborn screening; gene; free carnitine; primary carnitine deficiency;
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
  • [21] Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration
    Smith, WE
    Millington, DS
    Koeberl, DD
    Lesser, PS
    PEDIATRICS, 2001, 107 (05) : 1184 - 1187
  • [22] Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene
    Sitta, Angela
    Guerreiro, Gilian
    Coelho, Daniella de Moura
    da Rocha, Vitoria Volfart
    dos Reis, Bianca Gomes
    Sousa, Carmen
    Vilarinho, Laura
    Wajner, Moacir
    Vargas, Carmen Regla
    METABOLIC BRAIN DISEASE, 2021, 36 (02) : 205 - 212
  • [23] NEWBORN SCREENING FOR GLUTARIC ACIDAEMIA TYPE 1: THE DIETARY CHALLENGE
    Francis, D.
    Humphrey, M.
    Boneh, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 46 - 46
  • [24] DEEP SEQUENCING OF GCDH IN KNOWN GLUTARIC ACIDEMIA TYPE 1 PATIENTS
    Venturoni, Leah
    Woontner, Michael
    Goodman, Stephen I.
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 274 - 274
  • [25] Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
    Babu, Ruby P.
    Bishnupriya, G.
    Thushara, P. K.
    Alap, Christy
    Cariappa, Rohit
    Annapoorani
    Viswanathan, Kasi
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2015, 3 : 75 - 79
  • [26] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1
    Mushimoto, Yuichi
    Fukuda, Seiji
    Hasegawa, Yuki
    Kobayashi, Hironori
    Purevsuren, Jamiyan
    Li, Hong
    Taketani, Takeshi
    Yamaguchi, Seiji
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 343 - 348
  • [27] Glutaric acidemia type I and the expanded newborn screening program: Recommendations for follow-up of abnormal screening results.
    Scharer, G.
    Woontner, M.
    Savino, E.
    Spector, E.
    Goodman, S. I.
    MOLECULAR GENETICS AND METABOLISM, 2007, 90 (03) : 260 - 261
  • [28] Glutaric aciduria type I: Identification of affected mothers through the newborn screening
    Vilarinho, L.
    Diogo, L.
    Martins, E.
    Garcia, P.
    Rocha, H.
    Sousa, C.
    Marcao, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 104 - 104
  • [29] Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel
    Korman, Stanley H.
    Jakobs, Cornelis
    Darmin, Patricia S.
    Gutman, Alisa
    van der Knaap, Marjo S.
    Ben-Neriah, Ziva
    Dweikat, Imad
    Wexler, Isaiah D.
    Salomons, Gajja S.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2007, 11 (02) : 81 - 89
  • [30] Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Shaik, Muntaj
    Kruthika-Vinod, T. P.
    Kamate, Mahesh
    Vedamurthy, A. B.
    INDIAN JOURNAL OF PEDIATRICS, 2019, 86 (11): : 995 - 1001