PRENATAL DIAGNOSIS OF INHERITED METABOLIC DISORDERS BY METABOLITE DETERMINATION IN AMNIOTIC FLUID SUPERNATANT

被引:0
|
作者
Caruso, U. [1 ]
Wamelink, M. M. [2 ]
Studinski, A. L. [3 ]
Vianey-Saban, C. [4 ]
Rabier, D. [5 ]
Jakobs, C. [2 ]
机构
[1] Univ Dept Paediat, Genoa, Italy
[2] Vrije Univ Amsterdam, Med Ctr, Metab Unit, Amsterdam, Netherlands
[3] Mayo Clin, Coll Med, Rochester, MN USA
[4] Hop Debrousse, Serv Biochim Pediat, Lyon, France
[5] Hop Necker Enfants Malad, Lab Biochim B, Paris, France
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
引用
收藏
页码:245 / 245
页数:1
相关论文
共 50 条
  • [31] Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
    Rachid, Myriam
    Dreux, Sophie
    de Ponfilly, Gauthier Pean
    Vargas-Poussou, Rosa
    Czerkiewicz, Isabelle
    Chevenne, Didier
    Oury, Jean-Francois
    Deschenes, Georges
    Muller, Francoise
    ANNALES DE BIOLOGIE CLINIQUE, 2017, 75 (02) : 204 - 208
  • [32] PRENATAL-DIAGNOSIS OF BLOODY AMNIOTIC-FLUID
    SUBRT, I
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (01): : 237 - 237
  • [33] The utility of phenomics in diagnosis of inherited metabolic disorders
    Rahman, Joyeeta
    Rahman, Shamima
    CLINICAL MEDICINE, 2019, 19 (01) : 30 - 36
  • [34] DIAGNOSIS OF INHERITED METABOLIC DISORDERS BY DNA ANALYSIS
    GUTTLER, F
    MEDICAL LABORATORY SCIENCES, 1985, 42 (04): : 326 - 332
  • [35] AMNIOTIC-FLUID TESTOSTERONE IN PRENATAL SEX DETERMINATION
    MEAN, F
    PESCIA, G
    VAJDA, D
    FELBER, JP
    MAGRINI, G
    JOURNAL DE GENETIQUE HUMAINE, 1981, 29 (04): : 441 - 447
  • [36] Wide metabolite coverage LC-MS/MS assay for the diagnosis of inherited metabolic disorders in urine
    Ivanovova, Eliska
    Pisklakova, Barbora
    Dobesova, Dana
    Janeckova, Hana
    Foltenova, Hana
    Kvasnicka, Ales
    Pridavok, Matlis
    Bouchalova, Katerina
    de Sousa, Julie
    Friedecky, David
    TALANTA, 2024, 271
  • [37] Amniotic Fluid Disorders: From Prenatal Management to Neonatal Outcomes
    Huri, Mor
    Di Tommaso, Mariarosaria
    Seravalli, Viola
    CHILDREN-BASEL, 2023, 10 (03):
  • [38] PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA BY DETERMINATION OF FUMARYLACETOACETASE IN CULTURED AMNIOTIC-FLUID CELLS
    KVITTINGEN, EA
    STEINMANN, B
    GITZELMANN, R
    LEONARD, JV
    ANDRIA, G
    BORRESEN, AL
    MOSSMAN, J
    MICARA, G
    LINDBLAD, B
    PEDIATRIC RESEARCH, 1985, 19 (04) : 334 - 337
  • [39] STABLE ISOTOPE-DILUTION ANALYSIS OF 3-HYDROXYISOVALERIC ACID IN AMNIOTIC-FLUID - CONTRIBUTION TO THE PRENATAL-DIAGNOSIS OF INHERITED DISORDERS OF LEUCINE CATABOLISM
    JAKOBS, C
    SWEETMAN, L
    NYHAN, WL
    PACKMAN, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (01) : 15 - 20
  • [40] PROBLEMS ENCOUNTERED IN PRENATAL-DIAGNOSIS OF METABOLIC DISEASES USING CULTURED AMNIOTIC-FLUID CELLS
    MAIRE, I
    ZABOT, MT
    MATHIEU, M
    CLINICAL BIOCHEMISTRY, 1983, 16 (06) : 358 - 358