Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management;Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : Consensus français pour le dépistage, le diagnostic, et la prise en charge

Archives de Pediatrie

Volumn 19, Issue 2, 2012, Pages 184-192

  Feillet, F ^a   Ogier, H ^b   Cheillan, D ^c   Aquaviva, C ^c   Labarthe, F ^d   Baruteau, J ^e   Chabrol, B ^f   de Lonlay, P ^g   Valayanopoulos, V ^g   Garnotel, R ^h   Dobbelaere, D ⁱ   Briand, G ⁱ   Jeannesson, E ^a   Vassault, A ^g,i   Vianey Saban, C ^c  

^a CHU NANCY BRABOIS   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d Centre de Pediatrie Clocheville   (France)

^e CHU RANGUEIL   (France)

^f TIMONE HOSPITAL   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h AMERICAN HOSPITAL OF PARIS   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE;

AMINO ACID BLOOD LEVEL; ARTICLE; ASYMPTOMATIC DISEASE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CONSENSUS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FRANCE; GENE MUTATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; SUDDEN DEATH;

ACYL-COA DEHYDROGENASE; DECISION TREES; FRANCE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING;

EID: 84856966753     PISSN: 0929693X     EISSN: 1769664X     Source Type: Journal    
DOI: 10.1016/j.arcped.2011.10.025     Document Type: Article

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