Newborn screening of galactokinase deficiency by arms in Bulgarian Roma population

被引：0
|
作者：
Kremensky, I
Gitzelmann, R
Savov, A
Kalaydjieva, L
Markova, M
机构：
[1] Med Univ Sofia, Lab Mol Pathol, Sofia, Bulgaria
[2] Univ Zurich, Childrens Hosp, Div Metab & Mol Paediat, Zurich, Switzerland
[3] Edith Cowan Univ, Ctr Human Genet, Perth, WA, Australia
[4] Med Univ Sofia, Clin Lab, Sofia, Bulgaria
来源：
CLINICAL CHEMISTRY | 2001年 / 47卷 / 11期
关键词：
D O I：
暂无
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
1
引用
收藏
页码：2078 / 2078
页数：1
相关论文
共 50 条
  • [1] GALACTOKINASE DEFICIENCY IN A NEWBORN
    LINNEWEH, F
    SCHAUMLOFFEL, E
    VETRELLA, M
    [J]. KLINISCHE WOCHENSCHRIFT, 1970, 48 (01): : 31 - +
  • [2] Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
    Hennermann, Julia B.
    Schadewaldt, Peter
    Vetter, Barbara
    Shin, Yoon S.
    Moench, Eberhard
    Klein, Jeannette
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (02) : 399 - 407
  • [3] 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.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2018, 124 (01) : 50 - 56
  • [4] GALACTOKINASE DEFICIENCY IN A NEWBORN INFANT
    KERR, MM
    LOGAN, RW
    CANT, JS
    HUTCHISO.JH
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1971, 46 (250) : 864 - &
  • [5] Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening
    Janzen, Nils
    Illsinger, Sabine
    Meyer, Uta
    Shin, Yoon S.
    Sander, Johannes
    Luecke, Thomas
    Das, Anibh M.
    [J]. ARCHIVES OF MEDICAL RESEARCH, 2011, 42 (07) : 608 - 612
  • [6] HYPERGALACTOSEMIA AND GALACTOSURIA DUE TO GALACTOKINASE DEFICIENCY IN A NEWBORN
    THALHAMMER, O
    GITZELMANN, R
    PANTLITSCHKO, M
    [J]. PEDIATRICS, 1968, 42 (03) : 441 - +
  • [7] DETECTION OF HETEROZYGOTES FOR GALACTOKINASE DEFICIENCY IN A HUMAN POPULATION
    MAYES, JS
    GUTHRIE, R
    [J]. BIOCHEMICAL GENETICS, 1968, 2 (03) : 219 - &
  • [8] A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
    Kalaydjieva, L
    Perez-Lezaun, A
    Angelicheva, D
    Onengut, S
    Dye, D
    Bosshard, NU
    Jordanova, A
    Savov, A
    Yanakiev, P
    Kremensky, I
    Radeva, B
    Hallmayer, J
    Markov, A
    Nedkova, V
    Tournev, I
    Aneva, L
    Gitzelmann, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) : 1299 - 1307
  • [9] TRANSITORY AND PARTIAL DEFICIENCY IN ERYTHROCYTIC GALACTOKINASE IN A NEWBORN CHILD - BIOCHEMICAL STUDY
    VIGNERON, C
    MARCHAL, C
    DEIFTS, C
    VIDAILHET, M
    PIERSON, M
    NEIMANN, N
    SCHNEIDE.M
    [J]. ARCHIVES FRANCAISES DE PEDIATRIE, 1970, 27 (05): : 523 - +
  • [10] High frequency of biotinidase deficiency in Italian population identified by newborn screening
    Funghini, Silvia
    Tonin, Rodolfo
    Malvagia, Sabrina
    Caciotti, Anna
    Donati, Maria Alice
    Morrone, Amelia
    la Marca, Giancarlo
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, 25
12345