Targeted metabolomics for diagnosing of inherited metabolic disorders

被引：0
|
作者：
Kraetschmerova, H. [1 ,2 ]
Hlidkova, E. [1 ,2 ]
Hron, K. [3 ]
Wojtowicz, P. [1 ,2 ]
Friedecky, D. [1 ,2 ]
Hornik, P. [4 ,5 ]
Behulova, D. [6 ]
Prochazkova, D. [7 ]
Vinohradska, H. [7 ]
Stastna, S. [4 ,5 ]
Kozich, V. [4 ,5 ]
Adam, T. [1 ,2 ]
机构：
[1] Palacky Univ, Lab Inherited Metab Disorders, CR-77147 Olomouc, Czech Republic
[2] Univ Hosp, Olomouc, Czech Republic
[3] Palacky Univ, Dept Math Anal & Applicat Math, CR-77147 Olomouc, Czech Republic
[4] Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic
[5] Gen Univ Hosp Prague, Prague, Czech Republic
[6] Hosp Children, Dept Clin Biochem, Bratislava, Slovakia
[7] Univ Hosp Brno, Dept Clin Biochem & Hematol, Brno, Czech Republic
来源：
CLINICAL BIOCHEMISTRY | 2011年 / 44卷 / 07期
关键词：
D O I：
10.1016/j.clinbiochem.2011.03.035
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：520 / 520
页数：1
相关论文
共 50 条
  • [1] Education needs in diagnosing rare inherited metabolic disorders: A clinician survey
    Rohani-Montez, S. Christy
    [J]. MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 113 - 113
  • [2] DIAGNOSIS OF INHERITED METABOLIC DISORDERS USING A TARGETED METABOLOMIC APPROACH
    Kraetschmerova, H.
    Hlidkova, E.
    Hron, K.
    Wojtowicz, P.
    Baresova, A.
    Friedecky, D.
    Hornik, P.
    Behulova, D.
    Prochazkova, D.
    Vinohradska, H.
    Peskova, K.
    Adam, T.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S269 - S269
  • [3] Inherited metabolic diseases: benefits of metabolomics
    Ricquier, D
    [J]. M S-MEDECINE SCIENCES, 2005, 21 (05): : 512 - 516
  • [4] Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
    Janeckova, Hana
    Hron, Karel
    Wojtowicz, Petr
    Hlidkova, Eva
    Baresova, Anna
    Friedecky, David
    Zidkova, Lenka
    Hornik, Petr
    Behulova, Darina
    Prochazkova, Dagmar
    Vinohradska, Hana
    Peskova, Karolina
    Bruheim, Per
    Smolka, Vratislav
    St'astna, Sylvie
    Adam, Tomas
    [J]. JOURNAL OF CHROMATOGRAPHY A, 2012, 1226 : 11 - 17
  • [5] DIAGNOSING INHERITED METABOLIC ENCEPHALOPATHIES IN NEONATES
    CARTWRIGHT, JD
    [J]. SEMINARS IN NEUROLOGY, 1993, 13 (01) : 58 - 65
  • [6] Diagnosing Czech Patients with Inherited Platelet Disorders
    Louzil, Jan
    Stikarova, Jana
    Provaznikova, Dana
    Hrachovinova, Ingrid
    Fenclova, Tereza
    Musil, Jan
    Radek, Martin
    Kaufmanova, Jirina
    Geierova, Vera
    Ceznerova, Eliska
    Salaj, Peter
    Kotlin, Roman
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (22)
  • [7] JAUNDICE AND INHERITED METABOLIC DISORDERS
    BURLINA, AB
    [J]. RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1987, 13 (05): : 576 - 582
  • [8] Diagnosing Inherited Platelet Disorders: Modalities and Consequences
    Zaninetti, Carlo
    Wolff, Martina
    Greinacher, Andreas
    [J]. HAMOSTASEOLOGIE, 2021, 41 (06): : 475 - 488
  • [9] Inherited metabolic disorders and dyslipidaemia
    Sulaiman, Raashda A.
    [J]. JOURNAL OF CLINICAL PATHOLOGY, 2020, 73 (07) : 384 - 390
  • [10] AWARENESS OF INHERITED METABOLIC DISORDERS
    HARLEY, EH
    [J]. SOUTH AFRICAN MEDICAL JOURNAL, 1985, 67 (19): : 746 - 746
12345