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Items: 1 to 20 of 343

1.

Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies.

Miwa S, Fujii H, Tani K, Takahashi K, Takizawa T, Igarashi T.

Am J Hematol. 1983 Jun;14(4):325-33.

PMID:
6305188
2.

Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?

Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR.

Blood. 1991 Jun 15;77(12):2774-84.

3.

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G.

Exp Hematol. 2007 Aug;35(8):1182-9.

PMID:
17662886
4.

Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family.

Miwa S, Fujii H, Tani K, Takahashi K, Takegawa S, Fujinami N, Sakurai M, Kubo M, Tanimoto Y, Kato T, Matsumoto N.

Am J Hematol. 1981 Dec;11(4):425-37.

PMID:
7331996
5.

Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability.

Magnani M, Stocchi V, Cucchiarini L, Novelli G, Lodi S, Isa L, Fornaini G.

Blood. 1985 Sep;66(3):690-7.

6.

Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency.

Beutler E, Dyment PG, Matsumoto F.

Blood. 1978 May;51(5):935-40.

7.
8.

[Hemolytic anemia due to abnormalities in erythrocyte nucleotide metabolism].

Masuda M, Mizoguchi H.

Nihon Rinsho. 1996 Sep;54(9):2473-7. Review. Japanese.

PMID:
8890581
9.

Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia.

Beutler E, Carson D, Dannawi H, Forman L, Kuhl W, West C, Westwood B.

J Clin Invest. 1983 Aug;72(2):648-55.

10.
11.

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.

Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E.

Blood. 2003 Jul 1;102(1):353-6. Epub 2003 Mar 20.

12.

Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.

Valentine WN, Paglia DE, Tartaglia AP, Gilsanz F.

Science. 1977 Feb 25;195(4280):783-5.

PMID:
836588
13.

Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis.

Kanno H, Tani K, Fujii H, Iguchi-Ariga SM, Ariga H, Kozaki T, Miwa S.

Jpn J Exp Med. 1988 Feb;58(1):1-8.

PMID:
3164080
14.

Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency.

Valentine WN, Anderson HM, Paglia DE, Jaffé ER, Konrad PN, Harris SR.

Blood. 1972 May;39(5):674-84. No abstract available.

15.

Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia.

Rijksen G, Akkerman JW, van den Wall Bake AW, Hofstede DP, Staal GE.

Blood. 1983 Jan;61(1):12-8.

16.

Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency.

Valentine WN, Fink K, Paglia DE, Harris SR, Adams WS.

J Clin Invest. 1974 Oct;54(4):866-79.

17.

Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.

Qualtieri A, Pedace V, Bisconte MG, Bria M, Gulino B, Andreoli V, Brancati C.

Br J Haematol. 1997 Dec;99(4):770-6.

PMID:
9432020
18.

Extreme deficiency of L-type pyruvate kinase with moderate clinical expression.

Staal GE, Rijksen G, Vlug AM, Vromen-van den Bos B, Akkerman JW, Gorter G, Dierick J, Petermans M.

Clin Chim Acta. 1982 Feb 5;118(2-3):241-53.

PMID:
7055983
19.

[Deficiency of pyruvate kinase in erythrocytes: biochemical studies. Preliminary communication].

Stanulović M, Jerance D, Stojimirović E.

Bilt Hematol Transfuz. 1977;5(3-4):95-6. Croatian.

PMID:
615616
20.

A phosphoglycerate kinase variant, PGK Uppsala, associated with hemolytic anemia.

Hjelm M, Wadam B, Yoshida A.

J Lab Clin Med. 1980 Dec;96(6):1015-21.

PMID:
7430759

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