Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia

被引:21
|
作者
Muller, D
Santer, R
Krawinkel, M
Christiansen, B
Schaub, J
机构
[1] CHRISTIAN ALBRECHTS UNIV KIEL,CHILDRENS HOSP,D-24105 KIEL,GERMANY
[2] SCHLESWIG HOLSTEIN,CENT SCREENING UNIT,KIEL,GERMANY
关键词
D O I
10.1023/A:1005375629820
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:607 / 608
页数:2
相关论文
共 50 条
  • [1] A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia
    Peduto, A
    Spada, M
    Alluto, A
    La Dolcetta, M
    Ponzone, A
    Santer, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (02) : 279 - 280
  • [2] The Fanconi-Bickel syndrome: A case of neonatal onset
    Riva S.
    Ghisalberti C.
    Parini R.
    Furlan F.
    Bettinelli A.
    Somaschini M.
    Journal of Perinatology, 2004, 24 (5) : 322 - 323
  • [3] FANCONI-BICKEL SYNDROME
    MANZ, F
    BICKEL, H
    BRODEHL, J
    FEIST, D
    GELLISSEN, K
    GESCHOLLBAUER, B
    GILLI, G
    HARMS, E
    HELWIG, H
    NUTZENADEL, W
    WALDHERR, R
    PEDIATRIC NEPHROLOGY, 1987, 1 (03) : 509 - 518
  • [4] Fanconi-Bickel syndrome
    Karande, Sunil
    Kumbhare, Nilesh
    Kulkarni, Madhuri
    INDIAN PEDIATRICS, 2007, 44 (03) : 223 - 225
  • [5] FANCONI-BICKEL SYNDROME
    KOCH, HC
    MALLMANN, R
    KLINISCHE PADIATRIE, 1990, 202 (06): : 422 - 426
  • [6] Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia
    Yoo, HW
    Shin, YL
    Seo, EJ
    Kim, GH
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (06) : 351 - 353
  • [7] Fanconi-Bickel Syndrome
    Nair, Mohandas K.
    Sakamoto, Osamu
    Jagadeesh, Sujatha
    Nampoothiri, Sheela
    INDIAN JOURNAL OF PEDIATRICS, 2012, 79 (01): : 112 - 114
  • [8] Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia
    Han-Wook Yoo
    Young-Lim Shin
    Eul-Ju Seo
    Gu-Hwan Kim
    European Journal of Pediatrics, 2002, 161 : 351 - 353
  • [9] Hypophosphatemic Rickets: Presenting Features of Fanconi-Bickel Syndrome
    Roy, Mahua
    Bose, K.
    Paul, D. K.
    Anand, Puja
    CASE REPORTS IN PATHOLOGY, 2011, 2011
  • [10] EARLY DIAGNOSIS OF FANCONI-BICKEL SYNDROME IDENTIFIED BY NEONATAL SCREENING FOR GALACTOSEMIA IN LITHUANIA
    Cerkauskiene, Rimante
    Cerkauskaite, Agne
    Jurkyte, Rugile
    Songailiene, Jurgita
    PEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1877 - 1877