Neonatal diagnosis and treatment of Menkes disease

New England Journal of Medicine

Volumn 358, Issue 6, 2008, Pages 605-614

  Kaler, Stephen G ^a   Holmes, Courtney S ^b   Goldstein, David S ^b   Tang, Jingrong ^a   Godwin, Sarah C ^a   Donsante, Anthony ^a   Liew, Clarissa J ^b   Sato, Susumu ^b   Patronas, Nicholas ^c  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIHYDROXYPHENYLETHYLENE GLYCOL; CATECHOLAMINE; COPPER; DIHYDROXYPHENYLACETIC ACID; DOPAMINE; DOPAMINE BETA MONOOXYGENASE; MENKES PROTEIN; NORADRENALIN;

ARTICLE; CATECHOLAMINE BLOOD LEVEL; CHILD; CLINICAL ASSESSMENT; CLINICAL TRIAL; CONTROLLED STUDY; DELAYED DIAGNOSIS; DEMYELINATING DISEASE; DOPAMINE BLOOD LEVEL; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MENKES SYNDROME; NERVE CELL DIFFERENTIATION; NEUROCHEMISTRY; NEWBORN; NORADRENALIN BLOOD LEVEL; PATIENT CODING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SURVIVAL RATE; THERAPY DELAY; TREATMENT OUTCOME;

EID: 38949106566     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa070613     Document Type: Article

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