FOR BIOTINIDASE DEFICIENCY IN CALIFORNIA NEWBORNS

被引：0
|
作者：
Kazerouni, N. [1 ]
Lorey, F. [1 ]
Cusmano-Ozog, K. [2 ]
Cown, T. [2 ]
Hodgkinson, C. [1 ]
Sherwin, J. [3 ]
Roberson, M. [1 ]
机构：
[1] Calif Dept Publ Hlth, Genet Dis Screening Program, Richmond, CA USA
[2] Stanford Univ, Med Ctr, Biochem Genet Lab, Palo Alto, CA 94304 USA
[3] Perkin Elmer Inc, Lab Operat, Bridgeville, PA USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 98卷 / 1-2期
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：
540
引用
收藏
页码：104 / 104
页数：1
相关论文
共 50 条
  • [41] A case of laparoschisis with biotinidase deficiency
    Cousin, V. L.
    Kurian, M.
    Wilde, J.
    Sizonencko, S.
    Kern, I
    Huppi, P. S.
    SWISS MEDICAL WEEKLY, 2016, 146 : 30S - 30S
  • [42] 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
  • [43] BIOTINIDASE DEFICIENCY AND THE EYE AND EAR
    TAITZ, LS
    GREEN, A
    STRACHAN, I
    BARTLETT, K
    BENNET, M
    LANCET, 1983, 2 (8355): : 918 - 918
  • [44] 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
  • [45] Neonatal screening for biotinidase deficiency
    Pinto, ALR
    Raymond, KM
    Bruck, I
    Antoniuk, SA
    REVISTA DE SAUDE PUBLICA, 1998, 32 (02): : 148 - 152
  • [46] 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
  • [47] EVALUATION OF BIOTINIDASE DEFICIENCY SCREENING
    BROWN, ARD
    WILCKEN, B
    LIU, A
    GERMANOS, M
    CURRENT TRENDS IN INFANT SCREENING, 1989, 848 : 253 - 254
  • [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] BIOTINIDASE DEFICIENCY - METABOLITES IN CSF
    FOIS, A
    CIONI, M
    BALESTRI, P
    BARTALINI, G
    BAUMGARTNER, R
    BACHMANN, C
    JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (03) : 284 - 285
12345