MOTHERS THROUGH SONS - THE OTHER SIDE OF EXPANDED NEWBORN SCREENING: DATA FROM PORTUGUESE NEWBORN SCREENING PROGRAM.

被引:0
|
作者
Rocha, H. [1 ]
Marcao, A. [1 ]
Sousa, C. [1 ]
Fonseca, H. [1 ]
Lopes, L. [1 ]
Vilarinho, L. [1 ]
机构
[1] Natl Inst Hlth, Dept Genet, Newborn Screening Unit, Oporto, Portugal
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
567
引用
收藏
页码:110 / 110
页数:1
相关论文
共 50 条
  • [21] Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
    Chiang, Shu-Chuan
    Hwu, Wuh-Liang
    Lee, Ni-Chung
    Hsu, Li-Wen
    Chien, Yin-Hsiu
    [J]. MOLECULAR GENETICS AND METABOLISM, 2012, 106 (03) : 281 - 286
  • [22] Identification of mild PAH deficiency through expanded carrier screening, undetected via newborn screening process
    Becker, Karen
    Paras, Andrea
    Kozek, Anne
    Vucko, Erika
    [J]. MOLECULAR GENETICS AND METABOLISM, 2024, 141 (04)
  • [23] Newborn screening for hemoglobinopathies using HPLC and capillary electrophoresis: Initial findings from the Quebec Newborn Blood Screening Program
    Berthier, Marie-Therese
    Choquette, Anne
    Girard, Jean-Guy
    Giguere, Yves
    [J]. CLINICAL BIOCHEMISTRY, 2014, 47 (15) : 132 - 132
  • [24] Newborn screening for hemoglobinopathies using HPLC and capillary electrophoresis: Initial findings from the Quebec Newborn Blood Screening Program
    Choquette, Anne
    Girard, Jean-Guy
    Giguere, Yves
    Berthier, Marie-Therese
    [J]. CLINICAL BIOCHEMISTRY, 2014, 47 (12) : 1142 - 1143
  • [25] 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.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 104 - 104
  • [26] Emerging Data from a Newborn Hearing Screening Program in Sharjah, United Arab Emirates
    Ayas, Muhammed
    Yaseen, Hakam
    [J]. INTERNATIONAL JOURNAL OF PEDIATRICS, 2021, 2021
  • [27] Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening
    Lynch, L.
    Pender, A.
    Kozenko, M.
    Potter, M.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) : 336 - 337
  • [28] The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts
    Gennaccaro, M
    Waisbren, SE
    Marsden, D
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (06) : 819 - 824
  • [29] Assessing diagnostic accuracy of primary TSH screening, primary T4 and secondary TSH screening methods for newborn congenital hypothyroidism screening program.
    Wang, ST
    Pizzolato, S
    Demshar, HP
    [J]. CLINICAL CHEMISTRY, 1997, 43 : 412 - 412
  • [30] Newborn screening as a system from birth through lifelong care
    McCabe, Linda L.
    McCabe, Edward R. B.
    [J]. GENETICS IN MEDICINE, 2009, 11 (06) : 409 - 410