EXPANDED NEONATAL SCREENING SINCE 2007: BIOTINIDASE DEFICIENCY IN THE NETHERLANDS. DO WE NEED TO TREAT PARTIAL BIOTINIDASE DEFICIENCY?

被引：0
|
作者：
Williams, M. [1 ]
De Klerk, J. B. C. [1 ]
Huijmans, J. G. M. [2 ]
Saris, J. J. [2 ]
Verheijen, F. W. [2 ]
机构：
[1] Erasmus MC Sophia Child Hosp, Dept Ped, Rotterdam, Netherlands
[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2011年 / 34卷
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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页码：S254 / S254
页数：1
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  • [1] BIOTINIDASE DEFICIENCY: THE NEED FOR NEONATAL SCREENING
    Eyskens, F.
    Tanyalcin, T.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 13 - 13
  • [2] NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY
    FORMAN, DT
    BANKSON, DD
    HIGHSMITH, WE
    [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 1992, 22 (03): : 144 - 154
  • [3] Neonatal screening for biotinidase deficiency
    Pinto, ALR
    Raymond, KM
    Bruck, I
    Antoniuk, SA
    [J]. REVISTA DE SAUDE PUBLICA, 1998, 32 (02): : 148 - 152
  • [4] Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
    Rachel C Wiltink
    Michelle E Kruijshaar
    Rick van Minkelen
    Willem Onkenhout
    Frans W Verheijen
    Evelien A Kemper
    Francjan J van Spronsen
    Ans T van der Ploeg
    Klary E Niezen-Koning
    Jasper J Saris
    Monique Williams
    [J]. European Journal of Human Genetics, 2016, 24 : 1424 - 1429
  • [5] Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
    Wiltink, Rachel C.
    Kruijshaar, Michelle E.
    van Minkelen, Rick
    Onkenhout, Willem
    Verheijen, Frans W.
    Kemper, Evelien A.
    van Spronsen, Francjan J.
    van der Ploeg, Ans T.
    Niezen-Koning, Klary E.
    Saris, Jasper J.
    Williams, Monique
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (10) : 1424 - 1429
  • [6] NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY - AN UPDATE
    WOLF, B
    HEARD, GS
    JEFFERSON, LG
    WEISSBECKER, KA
    MCVOY, JRS
    NANCE, WE
    MITCHELL, PL
    LAMBERT, FW
    LINYEAR, AS
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 : 303 - 306
  • [7] A METHOD FOR NEONATAL SCREENING OF BIOTINIDASE DEFICIENCY
    HEARD, GS
    MCVOY, JRS
    WOLF, B
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A96 - A96
  • [8] RESULTS OF NEONATAL AND SELECTIVE SCREENING FOR BIOTINIDASE DEFICIENCY
    PEREZCERDA, C
    MARTINEZ, P
    MERINERO, B
    RODRIGUEZPOMBO, P
    ROMAN, F
    GARCIA, MJ
    MARTINEZPARDO, M
    UGARTE, M
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 : 296 - 298
  • [9] WORLDWIDE SURVEY OF NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY
    WOLF, B
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (06) : 923 - 927
  • [10] NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY IN EAST-HUNGARY
    HAVASS, Z
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (06) : 928 - 931
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