In utero copper treatment for Menkes disease associated with a severe ATP7A mutation

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 222-228

  Haddad, Marie Reine ^a   Macri, Charles J ^b   Holmes, Courtney S ^c   Goldstein, David S ^c   Jacobson, Beryl E ^d   Centeno, Jose A ^e   Popek, Edwina J ^f   Gahl, Willam A ^g   Kaler, Stephen G ^a  

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

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

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

^d BC CHILDREN S HOSPITAL   (Canada)

^e JOINT PATHOLOGY CENTER   (United States)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

ATP7A; Copper; Fetal therapy; Menkes disease; MRNA splicing

Indexed keywords

AMPICILLIN; CATECHOL; CERULOPLASMIN; CLINDAMYCIN; COPPER; COPPER DERIVATIVE; GENTAMICIN; HISTIDINE COPPER; HISTIDINE DERIVATIVE; MENKES PROTEIN; UNCLASSIFIED DRUG;

AMNIOCENTESIS; ANTIBIOTIC THERAPY; ARTICLE; CASE REPORT; CATECHOLAMINE BLOOD LEVEL; CERULOPLASMIN BLOOD LEVEL; CHORIOAMNIONITIS; COPPER BLOOD LEVEL; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EARLY INTERVENTION; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; FETAL THERAPY; FETUS; FETUS ECHOGRAPHY; FETUS HEART RATE; FETUS LUNG MATURITY; FIBROBLAST; GESTATIONAL AGE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERBILIRUBINEMIA; INFANT; LOSS OF FUNCTION MUTATION; MALE; MENKES SYNDROME; MUSCLE HYPOTONIA; NEWBORN; PHOTOTHERAPY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; RNA SPLICING; TRACE METAL BLOOD LEVEL; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; CATECHOLS; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; FEMALE; FETAL DEATH; FETUS; HISTIDINE; HUMANS; MENKES KINKY HAIR SYNDROME; MUTATION; ORGANOMETALLIC COMPOUNDS; PLACENTA; PREGNANCY; STILLBIRTH;

EID: 84866145480     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.008     Document Type: Article

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