LCHAD DEFICIENCY - THE MOST FREQUENT FATTY ACID OXIDATION DISORDER IN NEWBORN SCREENING IN THE CZECH REPUBLIC

被引：0
|
作者：
Chrastina, P. [1 ,2 ]
Bartl, J. [1 ,2 ]
Hornik, P. [1 ,2 ]
Hladikova, J. [1 ,2 ]
Koubikova, H. [1 ,2 ]
Paulova, M. [1 ,2 ]
Kostalova, E. [1 ,2 ]
Stastna, S. [1 ,2 ]
机构：
[1] Charles Univ Prague, Inst Inherited Metab Disorders, Gen Fac Hosp, Prague, Czech Republic
[2] Charles Univ Prague, Fac Med 1, Prague, Czech Republic
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：
551
引用
收藏
页码：106 / 107
页数：2
相关论文
共 50 条
  • [31] Transplacental induction of fatty acid oxidation in newborn pigs by clofibrate
    Xi, Lin
    Jacobi, Sheila
    Odle, Jack
    FASEB JOURNAL, 2008, 22
  • [32] FATTY ACID OXIDATION DEFECTS REVEALED BY EXTREME PHYSICAL ACTIVITY, CASE REPORT WITH IMPLICATIONS FOR EXPANDED NEWBORN SCREENING
    Engvall, M.
    Barbaro, M.
    Wilbom, R.
    Nennesmo, I
    Bieneck, Haglind C.
    von Dobeln, U.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S57 - S57
  • [33] The diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency by newborn screening using tandem mass spectrometry
    Matern, D
    Cuthbert, CD
    Tortorelli, S
    Chace, DH
    Hahn, S
    Rinaldo, P
    PEDIATRIC RESEARCH, 2004, 55 (04) : 272A - 272A
  • [34] A review of fatty acid oxidation disorder mouse models
    Babcock, Shannon J.
    Houten, Sander M.
    Gillingham, Melanie B.
    MOLECULAR GENETICS AND METABOLISM, 2024, 142 (01)
  • [35] Malonyl CoA control of fatty acid oxidation in the newborn heart in response to increased fatty acid supply
    Onay-Besikci, Arzu
    Sambandam, Nandakumar
    CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY, 2006, 84 (11) : 1215 - 1222
  • [36] FATTY-ACID OXIDATION DEFECTS - PROSPECTS FOR SCREENING
    COATES, PM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 52 - 52
  • [37] Decreased Fatty Acid β-Oxidation Is the Main Cause of Fatty Liver Induced by Polyunsaturated Fatty Acid Deficiency in Mice
    Nakajima, Takero
    Yang, Yang
    Lu, Yu
    Kamijo, Yuji
    Yamada, Yosuke
    Nakamura, Kozo
    Koyama, Masahiro
    Yamaguchi, Shohei
    Sugiyama, Eiko
    Tanaka, Naoki
    Aoyama, Toshifumi
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2017, 242 (03): : 229 - 239
  • [38] Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
    Gragnaniello, Vincenza
    Cazzorla, Chiara
    Gueraldi, Daniela
    Loro, Christian
    Porcu, Elena
    Salviati, Leonardo
    Burlina, Alessandro P.
    Burlina, Alberto B.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2024, 10 (04)
  • [39] Medium Chain 3-Ketoacyl-Coenzyme A Thiolase Deficiency: A New Disorder of Mitochondrial Fatty Acid β-Oxidation
    Takehiko Kamijo
    Yasuhiro Indo
    Masayoshi Souri
    Toshifumi Aoyama
    Tomokuni Hara
    Shigenori Yamamoto
    Seiichi Ushikubo
    Piero Rinaldo
    Ichiro Matsuda
    Atsushi Komiyama
    Takashi Hashimoto
    Pediatric Research, 1997, 42 : 569 - 576
  • [40] 2,4-DIENOYL-COENZYME A REDUCTASE DEFICIENCY - A POSSIBLE NEW DISORDER OF FATTY-ACID OXIDATION
    ROE, CR
    MILLINGTON, DS
    NORWOOD, DL
    KODO, N
    SPRECHER, H
    MOHAMMED, BS
    NADA, M
    SCHULZ, H
    MCVIE, R
    JOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (05): : 1703 - 1707
12345