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Volumn 28, Issue 1, 2005, Pages 89-93

Screening for Menkes disease using the urine HVA/VMA ratio

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; HISTIDINE; HOMOVANILLIC ACID; VANILMANDELIC ACID;

EID: 13844298755     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-5083-6     Document Type: Article
Times cited : (32)

References (14)
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    • 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.
    • (1993) Nature Genetics , vol.3 , pp. 14-19
    • Chelly, J.1    Tumer, Z.2    Tonnesen, T.3
  • 2
    • 0032485513 scopus 로고    scopus 로고
    • Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients
    • 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.
    • (1998) Am. J. Med. Genet. , vol.76 , pp. 154-164
    • Christodoulou, J.1    Danks, D.M.2    Sarkar, B.3
  • 3
    • 0000471415 scopus 로고    scopus 로고
    • Disorders of copper transport
    • CR Scriver AL Beaudet WS Sly D Valle eds; B Childs KW Kinzler B Vogelstein assoc. eds 8th edn McGraw-Hill New York
    • VC Culotta JD Gitlin 2001 Disorders of copper transport In: CR Scriver AL Beaudet WS Sly D Valle eds; B Childs KW Kinzler B Vogelstein assoc. eds The Metabolic and Molecular Bases of Inherited Disease 8th edn McGraw-Hill New York 3105-3126
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3105-3126
    • Culotta, V.C.1    Gitlin, J.D.2
  • 4
    • 0015384074 scopus 로고
    • Menkes' kinky hair syndrome: An inherited defect in copper absorption with widespread effects
    • 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.
    • (1972) Pediatrics , vol.50 , pp. 188-201
    • Danks, D.M.1    Campbell, P.E.2    Stevens, B.J.3    Mayne, V.4    Cartwright, E.5
  • 5
    • 0023444452 scopus 로고
    • Simple liquid-chromatographic measurement of vanillylmandelic acid and homovanillic acid in urine on filter paper for mass screening of neuroblastoma in infants
    • 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.
    • (1987) Clin. Chem. , vol.33 , pp. 2043-2046
    • Hanai, J.1    Kawai, T.2    Sato, Y.3    Takasugi, N.4    Nishi, M.5    Takeda, T.6
  • 6
    • 0028710036 scopus 로고
    • Menkes disease
    • Kaler SG (1994) Menkes disease. Adv Pediatr 41: 263-304.
    • (1994) Adv. Pediatr. , vol.41 , pp. 263-304
    • Kaler, S.G.1
  • 9
    • 0027475976 scopus 로고
    • Isolation of a partial candidate gene for Menkes disease by positional cloning
    • Mercer JFB, Livingston J, Hall B, et al. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genetics 3: 20-25.
    • (1993) Nature Genetics , vol.3 , pp. 20-25
    • Mercer, J.F.B.1    Livingston, J.2    Hall, B.3
  • 11
    • 0024831274 scopus 로고
    • Copper histidinate therapy in Menkes' disease: Prevention of progressive neurodegeneration
    • Sherwood G, Sarkar B, Kortsak AS (1989) Copper histidinate therapy in Menkes' disease: Prevention of progressive neurodegeneration. J Inherit Metab Dis 12 (supplement 2): 393-396.
    • (1989) J. Inherit. Metab. Dis. , vol.12 , Issue.SUPPL. 2 , pp. 393-396
    • Sherwood, G.1    Sarkar, B.2    Kortsak, A.S.3
  • 13
    • 0025146867 scopus 로고
    • Screening for neuroblastoma at 3 weeks of age: Methods and preliminary results from the Quebec Neuroblastoma Screening Project
    • Tuchman M, Lemieux B, Auray-Blais C, et al. (1990) Screening for neuroblastoma at 3 weeks of age: Methods and preliminary results from the Quebec Neuroblastoma Screening Project. Pediatrics 86: 765-773.
    • (1990) Pediatrics , vol.86 , pp. 765-773
    • Tuchman, M.1    Lemieux, B.2    Auray-Blais, C.3
  • 14
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    • Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
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    • (1993) Nature Genetics , vol.3 , pp. 7-13
    • Vulpe, C.1    Levinson, B.2    Whitney, S.3    Packman, S.4    Gitschier, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.