A case of laparoschisis with biotinidase deficiency

被引:0
|
作者
Cousin, V. L. [1 ]
Kurian, M. [1 ]
Wilde, J. [2 ]
Sizonencko, S. [1 ]
Kern, I [3 ]
Huppi, P. S. [1 ]
机构
[1] Geneva Univ Hosp, Div Dev & Growth, Dept Paediat, Geneva, Switzerland
[2] Geneva Univ Hosp, Dept Paediat Surg, Geneva, Switzerland
[3] Geneva Univ Hosp, Paediat Nephrol & Metab Unit, Dept Paediat, Geneva, Switzerland
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
P 13
引用
收藏
页码:30S / 30S
页数:1
相关论文
共 50 条
  • [41] Biotinidase deficiency: An atypical presentation
    Jagadeesh, Sujatha
    Suresh, Beena
    Seshadri, Suresh
    Suzuki, Yoichi
    NATIONAL MEDICAL JOURNAL OF INDIA, 2013, 26 (01): : 29 - 30
  • [42] MULTIPLE CARBOXYLASE DEFICIENCY DUE TO DEFICIENCY OF BIOTINIDASE
    THUY, LP
    ZIELINSKA, B
    ZAMMARCHI, E
    PAVARI, E
    VIERUCCI, A
    SWEETMAN, F
    SWEETMAN, L
    NYHAN, WL
    JOURNAL OF NEUROGENETICS, 1986, 3 (06) : 357 - 363
  • [43] Neonatal screening for biotinidase deficiency
    Pinto, ALR
    Raymond, KM
    Bruck, I
    Antoniuk, SA
    REVISTA DE SAUDE PUBLICA, 1998, 32 (02): : 148 - 152
  • [44] PHENOTYPIC VARIATION IN BIOTINIDASE DEFICIENCY
    WOLF, B
    GRIER, RE
    ALLEN, RJ
    GOODMAN, SI
    KIEN, CL
    PARKER, WD
    HOWELL, DM
    HURST, DL
    JOURNAL OF PEDIATRICS, 1983, 103 (02): : 233 - 237
  • [45] Neuroimaging Features of Biotinidase Deficiency
    Biswas, A.
    McNamara, C.
    Gowda, V. K.
    Gala, F.
    Sudhakar, S.
    Sidpra, J.
    Vari, M. S.
    Striano, P.
    Blaser, S.
    Severino, M.
    Batzios, S.
    Mankad, K.
    AMERICAN JOURNAL OF NEURORADIOLOGY, 2023, 44 (03) : 328 - 333
  • [46] BIOTINIDASE DEFICIENCY AND THE EYE AND EAR
    TAITZ, LS
    GREEN, A
    STRACHAN, I
    BARTLETT, K
    BENNET, M
    LANCET, 1983, 2 (8355): : 918 - 918
  • [47] Screening for biotinidase deficiency in newborns
    Garrison, L. B.
    Allen, T. W.
    CLINICAL CHEMISTRY, 2006, 52 (06) : A34 - A35
  • [48] BIOTINIDASE DEFICIENCY - PRESYMPTOMATIC TREATMENT
    WALLACE, SJ
    ARCHIVES OF DISEASE IN CHILDHOOD, 1985, 60 (06) : 574 - 575
  • [49] INFANTILE SEIZURES IN BIOTINIDASE DEFICIENCY
    ALLEN, RJ
    WOLF, B
    GRIER, RE
    DOROVINIZIS, K
    ANNALS OF NEUROLOGY, 1983, 14 (03) : 386 - 386
  • [50] EVALUATION OF BIOTINIDASE DEFICIENCY SCREENING
    BROWN, ARD
    WILCKEN, B
    LIU, A
    GERMANOS, M
    CURRENT TRENDS IN INFANT SCREENING, 1989, 848 : 253 - 254