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Results: 8

1.

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
[PubMed - indexed for MEDLINE]
2.

Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.

Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E.

Br J Haematol. 2001 Feb;112(2):475-82. Review.

PMID:
11167850
[PubMed - indexed for MEDLINE]
3.

Red cell enzymopathies as a model of inborn errors of metabolism.

Miwa S, Kanno H, Hirono A, Fujii H.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:112-9. Review.

PMID:
8629088
[PubMed - indexed for MEDLINE]
4.

Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia.

Miwa S, Fujii H.

Am J Hematol. 1985 Jul;19(3):293-305. Review.

PMID:
2990202
[PubMed - indexed for MEDLINE]
5.

Biochemical characterization of four new erythrocyte pyruvate kinase variants.

Tegos C, Anagnostoulis G.

Acta Haematol. 1994;92(2):91-6. Review.

PMID:
7817710
[PubMed - indexed for MEDLINE]
6.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
[PubMed - indexed for MEDLINE]
7.

Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature.

Hundsdoerfer P, Vetter B, Kulozik AE.

Acta Haematol. 2002;108(2):102-5. Review.

PMID:
12187030
[PubMed - indexed for MEDLINE]
8.

Haemolytic anaemia associated with disorders of the purine and pyrimidine salvage pathways.

Paglia DE, Valentine WN.

Clin Haematol. 1981 Feb;10(1):81-98. Review. No abstract available.

PMID:
6260409
[PubMed - indexed for MEDLINE]

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