Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 185-195

  Sykut Cegielska, Jolanta ^a   Gradowska, Wanda ^a   Piekutowska Abramczuk, Dorota ^a   Andresen, Brage S ^b   Olsen, Rikke K J ^c   Ołtarzewski, Mariusz ^d   Pronicki, Maciej ^a   Pajdowska, Magdalena ^a   Bogdańska, Anna ^a   Jabłońska, Ewa ^d   Radomyska, Barbara ^d   Kuśmierska, Katarzyna ^a   Krajewska Walasek, Małgorzata ^a   Gregersen, Niels ^c   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; DRUG DERIVATIVE; LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENASE; LONG-CHAIN 3-HYDROXYACYL COA DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; ASYMPTOMATIC DISEASE; BLOOD ANALYSIS; CHILD; CONTROLLED STUDY; DEATH; DIFFERENTIAL DIAGNOSIS; EMERGENCY HEALTH SERVICE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; SCHOOL CHILD; SURVIVAL RATE; SURVIVOR; SYMPTOM; TANDEM MASS SPECTROMETRY; URINALYSIS; COHORT ANALYSIS; DESICCATION; EVALUATION; GENETICS; INBORN ERROR OF METABOLISM; MASS FRAGMENTOGRAPHY; METABOLISM; METHODOLOGY; MORTALITY; NEWBORN INTENSIVE CARE; NUCLEOTIDE SEQUENCE; ORGANIZATION AND MANAGEMENT; PHYSICAL EXAMINATION; PILOT STUDY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SURVIVAL; TIME; URINE;

3-HYDROXYACYL COA DEHYDROGENASES; ADOLESCENT; CARNITINE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DESICCATION; DNA MUTATIONAL ANALYSIS; EMERGENCY SERVICE, HOSPITAL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; INTENSIVE CARE UNITS, NEONATAL; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PHYSICAL EXAMINATION; PILOT PROJECTS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SURVIVAL; TIME FACTORS; URINALYSIS;

EID: 79955898166     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9244-x     Document Type: Article

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