POSTMORTEM SCREENING AND THE IMPACT OF NEWBORN SCREENING ON MORTALITY RATES FOR MCAD DEFICIENCY

被引:0
|
作者
Johannsson, Freyr [1 ]
Tortorelli, Silvia [1 ]
Gavrilov, Dimitar K. [1 ]
Matern, Dietrich [1 ]
Oglesbee, Devin [1 ]
Raymond, Kimiyo [1 ]
Schultz, Matthew [1 ]
机构
[1] Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN USA
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:251 / 251
页数:1
相关论文
共 50 条
  • [21] Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data
    Stroek, Kevin
    Bouva, Marelle J.
    Schielen, Peter C. J. I.
    Vaz, Frederic M.
    Heijboer, Annemieke C.
    de Jonge, Robert
    Boelen, Anita
    Bosch, Annet M.
    MOLECULAR GENETICS AND METABOLISM, 2018, 124 (01) : 50 - 56
  • [22] Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation
    Tajima, Go
    Hara, Keiichi
    Tsumura, Miyuki
    Kagawa, Reiko
    Okada, Satoshi
    Sakura, Nobuo
    Hata, Ikue
    Shigematsu, Yosuke
    Kobayashi, Masao
    MOLECULAR GENETICS AND METABOLISM, 2016, 119 (04) : 322 - 328
  • [23] Diagnosis of glutathione synthetase deficiency in newborn screening
    Simon, E.
    Vogel, M.
    Fingerhut, R.
    Ristoff, E.
    Mayatepek, E.
    Spiekerkoetter, U.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2009, 32 (01) : S269 - S272
  • [24] Newborn screening for guanidinoacetate methyl transferase deficiency
    Pitt, James J.
    Tzanakos, Nicholas
    Thanh Nguyen
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 303 - 304
  • [25] Newborn screening for T-cell deficiency
    Chase, Nicole M.
    Verbsky, James W.
    Routes, John M.
    CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2010, 10 (06) : 521 - 525
  • [26] Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?
    Hawthorne, Sarah
    Levy, Harvey L.
    JOURNAL OF PEDIATRICS, 2020, 216 : 9 - +
  • [27] Biotinidase deficiency: The results of local newborn screening study pioneered nationwide screening
    Ozer, I
    Baykal, T.
    Gokcay, G.
    Kose, R.
    Celik, S.
    Demirkol, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 26 - 26
  • [28] A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
    Jager, Emmalie A.
    Kuijpers, Myrthe M.
    Bosch, Annet M.
    Mulder, Margot F.
    Gozalbo, Estela R.
    Visser, Gepke
    de Vries, Maaike
    Williams, Monique
    Waterham, Hans R.
    van Spronsen, Francjan J.
    Schielen, Peter C. J. I.
    Derks, Terry G. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (05) : 890 - 897
  • [29] Implications of Genomic Newborn Screening for Infant Mortality
    Wojcik, Monica H. H.
    Gold, Nina B. B.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2023, 9 (01)
  • [30] Breast carcinoma mortality rates and screening
    Moss, SM
    CANCER, 1997, 79 (01) : 1 - 2