Oxidative abnormalities in Menkes disease

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 349-351

  Rizzo, C ^a   Bertini, E ^a   Piemonte, F ^a   Leuzzi, V ^b   Sabetta, G ^a   Federici, G ^a   Luchetti, A ^a   Dionisi Vici, C ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CARBOXYLIC ACID; CERULOPLASMIN; COPPER; COPPER DERIVATIVE;

BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; COPPER BLOOD LEVEL; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MENKES SYNDROME; PRESCHOOL CHILD; RESPIRATORY CHAIN; URINE LEVEL;

CELLS, CULTURED; CERULOPLASMIN; COPPER; CYTOCHROME-C OXIDASE DEFICIENCY; FIBROBLASTS; HISTIDINE; HUMANS; LACTIC ACID; MENKES KINKY HAIR SYNDROME; ORGANOMETALLIC COMPOUNDS; OXIDATION-REDUCTION; TREATMENT OUTCOME;

EID: 0034129541     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005675012708     Document Type: Conference Paper

References (4)

1. Horn N (1981) Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. Prenat Diagn 1: 107-120.
2. Kaler SG (1994) Menkes disease. Adv Pediatr 41: 263-304.
3. Kreuder J, Otten A, Fuder H, et al (1993) Clinical and biochemical consequences of copperhistidine therapy in Menkes disease. Eur J Pediatr 152: 828-832.
4. Trounce IA, Yoon LK, Jun AS, Wallace DC (1996) Methods in Enzymology 264: 484-496.