The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

被引:0
|
作者
Shelley Kennedy
Beth K Potter
Kumanan Wilson
Lawrence Fisher
Michael Geraghty
Jennifer Milburn
Pranesh Chakraborty
机构
[1] Children's Hospital of Eastern Ontario,Newborn Screening Ontario
[2] University of Ottawa,Department of Epidemiology & Community Medicine
[3] University of Ottawa,Department of Medicine, Ottawa Hospital Research Institute
[4] University of Ottawa,Department of Pediatrics
[5] University of Ottawa,Department of Pathology and Laboratory Medicine
来源
BMC Pediatrics | / 10卷
关键词
Newborn Screening; Biochemical Phenotype; Newborn Screening Program; Birth Prevalence; Newborn Screen;
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] FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening
    Muru, Kai
    Reinson, Karit
    Kunnapas, Kadi
    Lillevali, Hardo
    Nochi, Zahra
    Mosegaard, Signe
    Pajusalu, Sander
    Olsen, Rikke K. J.
    Ounap, Katrin
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (09):
  • [22] Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China
    Lin, Yiming
    Zhang, Weifeng
    Chen, Zhixu
    Lin, Chunmei
    Lin, Weihua
    Fu, Qingliu
    Peng, Weilin
    Chen, Dongmei
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (05): : 649 - 652
  • [23] Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
    Lin, Yiming
    Gao, Hongzhi
    Lin, Chunmei
    Chen, Yanru
    Zhou, Shuang
    Lin, Weihua
    Zheng, Zhenzhu
    Li, Xiaoqing
    Li, Min
    Fu, Qingliu
    FRONTIERS IN GENETICS, 2019, 10
  • [24] Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
    Bleeker, Jeannette C.
    Kok, Irene L.
    Ferdinandusse, Sacha
    van der Pol, W. Ludo
    Cuppen, Inge
    Bosch, Annet M.
    Langeveld, Mirjam
    Derks, Terry G. J.
    Williams, Monique
    de Vries, Maaike
    Mulder, Margot F.
    Gozalbo, Estela R.
    de Sain-van der Velden, Monique G. M.
    Rennings, Alexander J.
    Schielen, Peter J. C. I.
    Dekkers, Eugenie
    Houtkooper, Riekelt H.
    Waterham, Hans R.
    Pras-Raves, Mia L.
    Wanders, Ronald J. A.
    van Hasselt, Peter M.
    Schoenmakers, Marja
    Wijburg, Frits A.
    Visser, Gepke
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (03) : 414 - 423
  • [25] Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China
    Hu, Haili
    Ma, Qingqing
    Li, Weidong
    Wang, Yan
    Song, Wangsheng
    Huang, Yong
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2024, 10 (04)
  • [26] Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
    Gallant, Natalie M.
    Leydiker, Karen
    Tang, Hao
    Feuchtbaum, Lisa
    Lorey, Fred
    Puckett, Rebecca
    Deignan, Joshua L.
    Neidich, Julie
    Dorrani, Naghmeh
    Chang, Erica
    Barshop, Bruce A.
    Cederbaum, Stephen D.
    Abdenur, Jose E.
    Wang, Raymond Y.
    MOLECULAR GENETICS AND METABOLISM, 2012, 106 (01) : 55 - 61
  • [27] Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
    Alcaide, Patricia
    Ferrer-Lopez, Isaac
    Gutierrez, Leticia
    Leal, Fatima
    Martin-Hernandez, Elena
    Quijada-Fraile, Pilar
    Bellusci, Marcello
    Morais, Ana
    Pedron-Giner, Consuelo
    Rausell, Dolores
    Correcher, Patricia
    Unceta, Maria
    Stanescu, Sinziana
    Ugarte, Magdalena
    Ruiz-Sala, Pedro
    Perez, Belen
    JOURNAL OF CLINICAL MEDICINE, 2022, 11 (10)
  • [28] Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
    Ventura, F. V.
    Leandro, P.
    Luz, A.
    Rivera, I. A.
    Silva, M. F. B.
    Ramos, R.
    Rocha, H.
    Lopes, A.
    Fonseca, H.
    Gaspar, A.
    Diogo, L.
    Martins, E.
    Leao-Teles, E.
    Vilarinho, L.
    Tavares de Almeida, I.
    CLINICAL GENETICS, 2014, 85 (06) : 555 - 561
  • [29] POPULATION SCREENING FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - ANALYSIS OF MEDIUM-CHAIN FATTY-ACIDS AND ACYLGLYCINES IN BLOOD SPOTS
    BENNETT, MJ
    RAGNI, MC
    OSTFELD, RJ
    SANTER, R
    SCHMIDTSOMMERFELD, E
    ANNALS OF CLINICAL BIOCHEMISTRY, 1994, 31 : 72 - 77
  • [30] Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia
    Sadat, Roa
    Hall, Patricia L.
    Wittenauer, Angela L.
    Vengoechea, Elizabeth D.
    Park, Kevin
    Hagar, Arthur F.
    Singh, Rani
    Moore, Renee H.
    Gambello, Michael J.
    MOLECULAR GENETICS AND METABOLISM, 2020, 129 (01) : 20 - 25