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Volumn 31, Issue 1, 2008, Pages 33-35

A novel c.197T → A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Author keywords

G6PD mutations; Glucose 6 phosphate dehydrogenase deficiency; Neonatal screening

Indexed keywords

ADENINE; ASPARAGINE; ASPARTIC ACID; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GUANINE; METHEMOGLOBIN; METHIONINE; PHENYLALANINE; THREONINE; TYROSINE; VALINE;

EID: 44649190581     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/s1415-47572008000100006     Document Type: Article
Times cited : (8)

References (11)
  • 1
    • 0019200943 scopus 로고
    • Distribution of abnormal hemoglobins and glucose-6-phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil
    • Azevêdo ES, Alves AFP, Silva MCBO, Souza MGF, Lima AMVMD and Azevêdo WC (1980) Distribution of abnormal hemoglobins and glucose-6-phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil. Am J Phys Anthropol 53:509-512.
    • (1980) Am J Phys Anthropol , vol.53 , pp. 509-512
    • Azevêdo, E.S.1    Alves, A.F.P.2    Silva, M.C.B.O.3    Souza, M.G.F.4    AMVMD, L.5    Azevêdo, W.C.6
  • 3
    • 0017892826 scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency in a general hospital of Salvador, Bahia, Brazil
    • Azevêdo WC, Silva ML, Grassi MC and Azevêdo ES (1978) Glucose-6-phosphate dehydrogenase deficiency in a general hospital of Salvador, Bahia, Brazil. Rev Bras Pesq Med Biol 11:49-52.
    • (1978) Rev Bras Pesq Med Biol , vol.11 , pp. 49-52
    • Azevêdo, W.C.1    Silva, M.L.2    Grassi, M.C.3    Azevêdo, E.S.4
  • 4
    • 0036306730 scopus 로고    scopus 로고
    • Hematologically important mutations: Glucose-6-phosphate dehydrogenase
    • Beutler E and Vulliamy TJ (2002) Hematologically important mutations: Glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 28:93-103.
    • (2002) Blood Cells Mol Dis , vol.28 , pp. 93-103
    • Beutler, E.1    Vulliamy, T.J.2
  • 5
    • 72849166068 scopus 로고
    • Methaemoglobin reduction test: A new, simple, in vitro test for identifying primaquine-sensitivity
    • Brewer GJ, Tarlov AR and Alving AS (1960) Methaemoglobin reduction test: A new, simple, in vitro test for identifying primaquine-sensitivity. Bull World Health Organ 22:633-640.
    • (1960) Bull World Health Organ , vol.22 , pp. 633-640
    • Brewer, G.J.1    Tarlov, A.R.2    Alving, A.S.3
  • 6
    • 27744516875 scopus 로고    scopus 로고
    • Diagnosis and management of G6PD deficiency
    • Frank JE (2005) Diagnosis and management of G6PD deficiency. Am Farn Physician 72:1277-1282.
    • (2005) Am Farn Physician , vol.72 , pp. 1277-1282
    • Frank, J.E.1
  • 7
    • 0004497053 scopus 로고
    • Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-)
    • Hirono A and Beutler E (1988) Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci 85:3951-3954.
    • (1988) Proc Natl Acad Sci , vol.85 , pp. 3951-3954
    • Hirono, A.1    Beutler, E.2
  • 8
    • 0037082463 scopus 로고    scopus 로고
    • A single mutation c.202 G > A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself
    • Hirono A, Kawate K, Honda A, Fujii H and Miwa S (2002) A single mutation c.202 G > A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. Blood 99:1498.
    • (2002) Blood , vol.99 , pp. 1498
    • Hirono, A.1    Kawate, K.2    Honda, A.3    Fujii, H.4    Miwa, S.5
  • 9
    • 29144463200 scopus 로고    scopus 로고
    • Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Jordan
    • Karadsheh NS, Moses L, Ismail SI, Devaney JM and Hoffman E (2005) Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Jordan. Haematologica 90:1693-1694.
    • (2005) Haematologica , vol.90 , pp. 1693-1694
    • Karadsheh, N.S.1    Moses, L.2    Ismail, S.I.3    Devaney, J.M.4    Hoffman, E.5
  • 10
    • 13844250277 scopus 로고    scopus 로고
    • Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind)
    • Laosombat V, Sattayasevana B, Janejindamai W, Viprakasit V, Shirakawa T, Nishiyama K and Matsuo, M (2005) Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). Blood Cells Mol Dis 34:191-196.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 191-196
    • Laosombat, V.1    Sattayasevana, B.2    Janejindamai, W.3    Viprakasit, V.4    Shirakawa, T.5    Nishiyama, K.6    Matsuo, M.7
  • 11
    • 44649160965 scopus 로고
    • Glucose-6-Phosphate Dehydrogenase Deficiency: Report of a WHO Working Group/Glucose-6-Phosphate Dehydrogenase Deficiency
    • World Health Organization , 77 pp
    • World Health Organization (1989) Glucose-6-Phosphate Dehydrogenase Deficiency: Report of a WHO Working Group/Glucose-6-Phosphate Dehydrogenase Deficiency. WHO, Geneva, 77 pp.
    • (1989) WHO, Geneva


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.