Decline of encephalopathic crises in children with glutaric aciduria type I identified by newborn screening in Germany

被引：0
|
作者：
Koelker, S.
Garbade, S. F.
Boy, N.
Maier, E. M.
Meissner, T.
Muehlhausen, C.
Hennermann, J. B.
Luecke, T.
Haeberle, J.
Baumkoetter, J.
Haller, W.
Mueller, E.
Zschocke, J.
Burgard, P.
Hoffmann, G. F.
机构：
[1] Univ Child Hosp, Heidelberg, Germany
[2] LMU, Dr Hauner Child Hosp, Munich, Germany
[3] Univ Child Hosp, Dusseldorf, Germany
[4] Univ Med Ctr, Hamburg, Germany
[5] Charite Univ Med Ctr, Berlin, Germany
[6] Hannover Med Sch, D-3000 Hannover, Germany
[7] Univ Child Hosp, Munster, Germany
[8] TU, Univ Child Hosp, Munich, Germany
[9] Evang Krankenhaus, Bethel, Bielefeld, Germany
[10] Inst Human Genet, Heidelberg, Germany
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2007年 / 30卷
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：38 / 38
页数：1
相关论文
共 50 条
  • [21] Rhabdomyolysis in glutaric aciduria type I
    Chow, SL
    Rohan, C
    Morris, AAM
    JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (07) : 711 - 712
  • [22] Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I
    Wongkittichote, Parith
    Edmondson, Andrew
    Hong, Xinying
    CLINICAL CHEMISTRY, 2023, 69 (04) : 431 - 432
  • [23] Type I glutaric aciduria: Phenotypes and genotypes in 5 Taiwanese children
    Shu, SG
    Tai, CR
    Chen, LH
    Chi, CS
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2003, 102 (10) : 729 - 732
  • [24] Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
    Keyser, Britta
    Glatzel, Markus
    Stellmer, Franziska
    Kortmann, Bastian
    Lukacs, Zoltan
    Koelker, Stefan
    Sauer, Sven W.
    Muschol, Nicole
    Herdering, Wilhelm
    Thiem, Joachim
    Goodman, Stephen I.
    Koeller, David M.
    Ullrich, Kurt
    Braulke, Thomas
    Muehlhausen, Chris
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2008, 1782 (06): : 385 - 390
  • [25] Manifestation of glutaric aciduria in an infant with false negative newborn screening
    Portmann, Katharina
    Bauder, Florian
    Fingerhut, Ralph
    Haberle, Johannes
    Kocher, Melanie
    Schmitt-M, Thomas
    SWISS MEDICAL WEEKLY, 2017, 147 : 17S - 17S
  • [26] COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1
    Zubarioglu, Tanyel
    Ahmadzada, Saffa
    Yalcinkaya, Cengiz
    Kiykim, Ertugrul
    Aktuglu-Zeybek, Cigdem
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (12): : 1611 - 1614
  • [27] Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Shaik, Muntaj
    Kruthika-Vinod, T. P.
    Kamate, Mahesh
    Vedamurthy, A. B.
    INDIAN JOURNAL OF PEDIATRICS, 2019, 86 (11): : 995 - 1001
  • [28] Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Muntaj Shaik
    Kruthika-Vinod T. P.
    Mahesh Kamate
    Vedamurthy A. B.
    The Indian Journal of Pediatrics, 2019, 86 : 995 - 1001
  • [29] Hereditary orotic aciduria identified by newborn screening
    Staretz-Chacham, Orna
    Damseh, Nadirah S. S.
    Daas, Suha
    Abu Salah, Nasser
    Anikster, Yair
    Barel, Ortal
    Dumin, Elena
    Fattal-Valevski, Aviva
    Falik-Zaccai, Tzipora C. C.
    Hershkovitz, Eli
    Josefsberg, Sagi
    Landau, Yuval
    Lerman-Sagie, Tally
    Mandel, Hanna
    Rock, Rachel
    Rostami, Nira
    Saraf-Levy, Talya
    Lotan, Nava Shaul
    Spiegel, Ronen
    Tal, Galit
    Ulanovsky, Igor
    Wilnai, Yael
    Korman, Stanley H. H.
    Almashanu, Shlomo
    FRONTIERS IN GENETICS, 2023, 14
  • [30] TWO INBORN ERRORS OF METABOLISM IN A NEWBORN: GLUTARIC ACIDURIA TYPE I COMBINED WITH ISOBUTYRYLGLYCINURIA
    Popek, M.
    Walter, M.
    Fernando, M.
    Lindner, M.
    Schwab, K. O.
    Sass, J. O.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S47 - S47
12345