EARLY PRENATAL-DIAGNOSIS IN 2 PREGNANCIES AT RISK FOR GLUTARYL-COA DEHYDROGENASE-DEFICIENCY

被引：10
|
作者：
HOLME, E [1 ]
KYLLERMAN, M [1 ]
LINDSTEDT, S [1 ]
机构：
[1] GOTHENBURG UNIV,E HOSP,DEPT PEDIAT 2,S-41685 GOTHENBURG,SWEDEN
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1989年 / 12卷
关键词：
D O I：
10.1007/BF03335398
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：280 / 282
页数：3
相关论文
共 50 条
  • [41] Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
    Stefan Kölker
    Sven F Garbade
    Cheryl R Greenberg
    James V Leonard
    Jean-Marie Saudubray
    Antonia Ribes
    H Serap Kalkanoglu
    Allan M Lund
    Begoña Merinero
    Moacir Wajner
    Mónica Troncoso
    Monique Williams
    John H Walter
    Jaume Campistol
    Milagros MartÍ-Herrero
    Melissa Caswill
    Alberto B Burlina
    Florian Lagler
    Esther M Maier
    Bernd Schwahn
    Aysegul Tokatli
    Ali Dursun
    Turgay Coskun
    Ronald A Chalmers
    David M Koeller
    Johannes Zschocke
    Ernst Christensen
    Peter Burgard
    Georg F Hoffmann
    Pediatric Research, 2006, 59 : 840 - 847
  • [42] THE CLINICAL, BIOCHEMICAL AND MOLECULAR FEATURES OF THREE IRANIAN PATIENTS WITH GLUTARYL-COA DEHYDROGENASE DEFICIENCY
    Tehrani, Saeed
    Zaman Dr
    Houshmand Dr
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S140 - S140
  • [43] PRENATAL-DIAGNOSIS IN 2 PREGNANCIES AT RISK FOR CONGENITAL SIALIDOSIS
    JOHNSON, WG
    THOMAS, GH
    MIRANDA, AF
    DRISCOLL, JM
    WIGGER, JH
    YEH, MN
    SCHWARTZ, RC
    COHEN, CS
    BERDON, WE
    KOENIGSBERGER, MR
    ANNALS OF NEUROLOGY, 1980, 8 (02) : 216 - 216
  • [44] Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    Lehnert, W
    Sass, JO
    MEDICAL HYPOTHESES, 2005, 65 (02) : 330 - 333
  • [45] Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency
    Lopez-Laso, E.
    Garcia-Villoria, J.
    Martin, E.
    Duque, P.
    Cano, A.
    Ribes, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (06) : 979 - 979
  • [46] Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct
    Christiane Busquets
    Begoña Merinero
    Ernst Christensen
    Josep Lluís Gelpí
    Jaume Campistol
    Mercè Pineda
    Emilio Fernández-Alvarez
    José M Prats
    Ana Sans
    Rosa Arteaga
    Milagros Martí
    Jaime Campos
    Mercedes Martínez-Pardo
    Antonio Martínez-Bermejo
    Julián Ó Vaquerizo
    Modesto Orozco
    Magdalena Ugarte
    M Josep Coll
    Antonia Ribes
    Pediatric Research, 2000, 48 : 315 - 322
  • [47] Glutaryl-CoA dehydrogenase deficiency in Spain:: Evidence of two groups of patients, genetically, and biochemically distinct
    Busquets, C
    Merinero, B
    Christensen, E
    Gelpí, JL
    Campistol, J
    Pineda, M
    Fernández-Alvarez, E
    Prats, JM
    Sans, A
    Arteaga, R
    Martí, M
    Campos, J
    Martínez-Pardo, M
    Martínez-Bermejo, A
    Ruiz-Falcó, ML
    Vaquerizo, J
    Orozco, M
    Ugarte, M
    Coll, MJ
    Ribes, A
    PEDIATRIC RESEARCH, 2000, 48 (03) : 315 - 322
  • [48] 3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing
    Pitt, J
    Carpenter, K
    Wilcken, B
    Boneh, A
    JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (02) : 83 - 88
  • [49] Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
    Kölker S.
    Garbade S.F.
    Boy N.
    Maier E.M.
    Meissner T.
    Mühlhausen C.
    Hennermann J.B.
    Lücke T.
    Häberle J.
    Baumkötter J.
    Haller W.
    Müller E.
    Zschocke J.
    Burgard P.
    Hoffmann G.F.
    Pediatric Research, 2007, 62 (3) : 357 - 363
  • [50] Decline of acute encephalopathic crises in children with Glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
    Koelker, Stefan
    Garbade, Sven F.
    Boy, Nikolas
    Maier, Esther M.
    Meissner, Thomas
    Muehlhausen, Chris
    Hennermann, Julia B.
    Luecke, Thomas
    Haeberle, Johannes
    Baumkoetter, Jochen
    Haller, Wolfram
    Mueller, Edith
    Zschocke, Johannes
    Burgard, Peter
    Hoffmann, Georg F.
    PEDIATRIC RESEARCH, 2007, 62 (03) : 357 - 363
12345