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Items: 1 to 20 of 337

1.

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.

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.

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
4.

Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.

Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A.

J Biol Chem. 1989 Jun 15;264(17):10148-55.

5.

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
6.

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
7.

[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
8.

AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.

Cheng J, Morisaki H, Toyama K, Ikawa M, Okabe M, Morisaki T.

Genes Cells. 2012 Nov;17(11):913-22. doi: 10.1111/gtc.12006. Epub 2012 Oct 18.

9.

Erythrocyte glutathione S-transferase deficiency and hemolytic anemia.

Beutler E, Dunning D, Dabe IB, Forman L.

Blood. 1988 Jul;72(1):73-7.

10.

Erythrocyte disorders of purine and pyrimidine metabolism.

Valentine WN, Paglia DE.

Hemoglobin. 1980;4(5-6):669-81. Review.

PMID:
6254919
11.

A simple screening procedure for adenylate kinase, hexokinase and glucose-6-phosphate dehydrogenase deficiencies.

Vaca G, Sanchez-Corona J, Olivares N, Medina C, Cantu JM.

Ann Genet. 1980;23(3):190-2.

PMID:
6252822
12.

Purine metabolism of erythrocytes in myotonic dystrophy.

Müller MM, Kuzmits R, Frass M, Mamoli B.

J Neurol. 1980;223(1):59-66.

PMID:
6155454
13.

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.

Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, Zanella A.

Br J Haematol. 1999 Apr;105(1):75-9.

PMID:
10233365
15.

Erythrocyte pyruvate kinase deficiency. The influence of physiologically important metabolites on the function of normal and defective enzymes.

Lakomek M, Winkler H, Pekrun A, Krüger N, Sander M, Huppke P, Schröter W.

Enzyme Protein. 1994-1995;48(3):149-63.

PMID:
8589802
16.

Mechanisms of adenosine 5'-monophosphate catabolism in human erythrocytes.

Paglia DE, Valentine WN, Nakatani M, Brockway RA.

Blood. 1986 Apr;67(4):988-92.

18.

An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis.

Paglia DE, Valentine WN, Baughan MA, Miller DR, Reed CF, McIntyre OR.

J Clin Invest. 1968 Aug;47(8):1929-46.

19.

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A.

Blood Cells Mol Dis. 2004 Sep-Oct;33(2):146-9.

PMID:
15315793
20.

Evidence for compartmentalized adenylate kinase catalysis serving a high energy phosphoryl transfer function in rat skeletal muscle.

Zeleznikar RJ, Heyman RA, Graeff RM, Walseth TF, Dawis SM, Butz EA, Goldberg ND.

J Biol Chem. 1990 Jan 5;265(1):300-11.

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