LABORATORY INVESTIGATIONS PROTOCOL FOR THE DIAGNOSIS OF HEREDITARY METABOLIC DISORDERS

被引：0
|
作者：
POGGI, F
RABIER, D
VASSAULT, A
CHARPENTIER, C
KAMOUN, P
SAUDUBRAY, JM
机构：
[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,UNITE METAB,F-75743 PARIS 15,FRANCE
[2] HOP NECKER ENFANTS MALAD,BIOCHIM LAB A,F-75743 PARIS 15,FRANCE
[3] HOP NECKER ENFANTS MALAD,BIOCHIM LAB B,F-75743 PARIS 15,FRANCE
来源：
ARCHIVES DE PEDIATRIE | 1994年 / 1卷 / 07期
关键词：
HEREDITARY METABOLIC DISEASES; LABORATORY INVESTIGATIONS AND DIAGNOSIS;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The authors describe a laboratory investigations protocol to be used by pediatricians facing conditions suggestive of inherited metabolic disorders. This protocol includes: 1) an emergency screening to be systematically performed during the acute clinical phase, 2) samplings to be kept frozen for possible secondary specific investigations according to the results of the emergency screening. In addition a perimortem protocol is also presented, to be applied in every lethal situations in wich an inherited metabolic disorder is suspected The equipment required in order for the clinician to properly perform the different investigations is also described.
引用
收藏
页码：667 / 673
页数：7
相关论文
共 50 条
  • [31] Hereditary hemochromatosis: An update vision of the laboratory diagnosis
    Molina, Claudia Abadia
    Ros, Nuria Goni
    Tarancon, Ricardo Gonzalez
    Varas, Luis Rello
    Flores, Valle Recasens
    Alvarez, Silvia Izquierdo
    JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY, 2023, 78
  • [32] Laboratory investigations in the diagnosis of septicaemia and malaria
    Dougle, ML
    Hendriks, ER
    Sanders, EJ
    Dorigo-Zetsma, JW
    EAST AFRICAN MEDICAL JOURNAL, 1997, 74 (06) : 353 - 356
  • [33] LABORATORY INVESTIGATIONS FOR DIAGNOSIS OF HEPATIC DISTOMATOSIS
    ROUGES, L
    PRESSE MEDICALE, 1961, 69 (47): : 2079 - &
  • [34] THE IMPORTANCE OF LABORATORY INVESTIGATIONS IN THE DIAGNOSIS OF OSTEOPOROSIS
    MUCK, AO
    LIPPERT, TH
    MEDIZINISCHE KLINIK, 1994, 89 (11) : 611 - 618
  • [35] Laboratory diagnostic approaches in metabolic disorders
    Guerrero, Ruben Bonilla
    Salazar, Denise
    Tanpaiboon, Pranoot
    ANNALS OF TRANSLATIONAL MEDICINE, 2018, 6 (24)
  • [36] PRENATAL DIAGNOSIS OF METABOLIC DISORDERS
    BENSON, PF
    BLUNT, S
    FENSOM, AH
    POLANI, PE
    COLTART, TM
    LANCET, 1975, 2 (7934): : 552 - 553
  • [37] PRENATAL DIAGNOSIS OF METABOLIC DISORDERS
    PATRICK, AD
    ELLIS, RB
    LANCET, 1976, 1 (7962): : 755 - 756
  • [38] ANTENATAL DIAGNOSIS OF METABOLIC DISORDERS
    BURTON, BK
    NADLER, HL
    CLINICS IN OBSTETRICS AND GYNAECOLOGY, 1980, 7 (01): : 27 - 40
  • [39] APPLICATION OF ULTRAMICROTECHNIQUE FOR THE DIAGNOSIS OF HEREDITARY METABOLIC DISEASES
    SUZUKI, Y
    YOKOTA, S
    KOBAYASHI, N
    KATO, T
    ACTA PAEDIATRICA JAPONICA, 1981, 23 (01): : 44 - 48
  • [40] Development of Laboratory Investigations in Disorders of Sex Development
    Audi, Laura
    Camats, Nuria
    Fernandez-Cancio, Monica
    Granada, Maria L.
    SEXUAL DEVELOPMENT, 2018, 12 (1-3) : 7 - 18
12345