Menkes disease: Recent advances and new aspects

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 265-274

  Tümer, Zeynep ^a,b   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Copper metabolism; Menkes disease; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CERULOPLASMIN; COPPER; COPPER COMPLEX; DNA; HISTIDINE COPPER; MESSENGER RNA; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMNIOCENTESIS; CERULOPLASMIN BLOOD LEVEL; CHORION VILLUS SAMPLING; CHROMOSOME 13Q; CHROMOSOME XQ; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; COPPER BLOOD LEVEL; COPPER METABOLISM; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; GENE ISOLATION; GENE LOCUS; GENE MUTATION; HETEROZYGOTE DETECTION; HOMEOSTASIS; HUMAN; KARYOTYPE 46,XX; LIVER DISEASE; MENKES SYNDROME; NERVE DEGENERATION; NONHUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; WILSON DISEASE;

EUKARYOTA;

EID: 0030928379     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.265     Document Type: Review

References (10)

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2. Horn N, Tønnesen T, Tümer Z. Menkes disease: an X-linked neurological disorder of the copper metabolism. Brain Pat 1992;2:351-62.
3. Danks DM. Disorders of copper transport. In: Scriver JR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1995:2211-35.
4. Horn N, Tønnesen T, Tümer Z. Clinical variability of the Menkes disease. In: Sarkar B, ed. Metals and genetics. New-York: Marcel and Dekker, 1995:285-303.
5. Peltonen L, Kuivaniemi H, Palotie A, Horn N, Kaitila I, Kivirikko KI. Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry 1983;22:6156-63.
6. Procopis P, Camakaris J, Danks DM. A mild form of Menkes' syndrome. J Pediair 1981;98:97-9.
7. Danks DM. The mild form of Menkes disease: progress report on the original case. Am J Med Genet 1988;30:859-64.
8. Danks DM, Stevens BJ, Campbell PE, et al. Menkes' kinky-hair syndrome. Lancet 1972;i:1100-2.
9. Heydorn K, Damsgaard E, Horn N, et al. Extra-hepatic storage of copper. A male foetus suspected of Menkes' disease. Humangenetik 1975;29:171-5.
10. Horn N, Heydorn K, Damsgaard E, Tygstrup I, Vestermark S. Is Menkes syndrome a copper storage disorder? Clin Genet 1978;14:186-7.