Early treatment of Menkes disease with parenteral cooper-Histidine: Long-term follow-up of four treated patients

American Journal of Medical Genetics

Volumn 76, Issue 2, 1998, Pages 154-164

  Christodoulou, John ^a,b,i   Danks, David M ^c   Sarkar, Bibudhendra ^a,d   Baerlocher, Kurt E ^e   Casey, Robin ^f   Horn, Nina ^g   Tümer, Zeynep ^g,h   Clarke, Joe T R ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d UNIVERSITY OF TORONTO   (Canada)

^e Paediatrische Klinik   (Switzerland)

^f UNIVERSITY OF SASKATCHEWAN   (Canada)

^g JOHN F KENNEDY INSTITUTE   (Denmark)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Copper histidine; Genotype; Menkes disease; Mutation; Occipital horn syndrome; Phenotype; Therapy

Indexed keywords

COPPER; COPPER ACETATE; COPPER CHLORIDE; COPPER DERIVATIVE; HISTIDINE DERIVATIVE; OXYGENASE; PENICILLAMINE; PHENYLSERINE;

ADULT; ANEURYSM; ARTICLE; CASE REPORT; CHRONIC DIARRHEA; CLINICAL FEATURE; COPPER DEFICIENCY; COPPER METABOLISM; DOSE RESPONSE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERSPLENISM; INTELLECT; INTRAMUSCULAR DRUG ADMINISTRATION; INTRAVENOUS DRUG ADMINISTRATION; MALE; MENKES SYNDROME; ORAL DRUG ADMINISTRATION; ORTHOSTATIC HYPOTENSION; PRIORITY JOURNAL; SCHOOL CHILD; SPLEEN ARTERY; SPLENOMEGALY; SUBCUTANEOUS DRUG ADMINISTRATION; SYNCOPE;

ADOLESCENT; ADULT; CHILD; COPPER; DRUG THERAPY, COMBINATION; FOLLOW-UP STUDIES; HISTIDINE; HUMANS; MALE; MENKES KINKY HAIR SYNDROME;

EID: 0032485513     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980305)76:2<154::AID-AJMG9>3.0.CO;2-T     Document Type: Article

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