Screening for Menkes disease using the urine HVA/VMA ratio

Author:

Matsuo M.,Tasaki R.,Kodama H.,Hamasaki Y.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Chelly J, Tumer Z, Tonnesen T, et al (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genetics 3: 14–19.

2. Christodoulou J, Danks DM, Sarkar B, et al (1998) Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 76: 154–164.

3. Culotta VC, Gitlin JD (2001) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. 2. New York: McGraw-Hill, 3105–3126.

4. Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E (1972) Menkes’ kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics 50: 188–201.

5. Hanai J, Kawai T, Sato Y, Takasugi N, Nishi M, Takeda T (1987) Simple liquid-chromatographic measurement of vanillylmandelic acid and homovanillic acid in urine on filter paper for mass screening of neuroblastoma in infants. Clin Chem 33: 2043–2046.

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