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Abstract

Background: Hematopoietic stem cell (HSC) gene therapy has cured immunodeficiencies including X-linked severe combined immunodeficiency (SCID-X1) and adenine deaminase deficiency (ADA). For these immunodeficiencies corrected cells have a selective advantage in vivo, and low numbers of gene-modified ...

Author(s)
Trobridge, G. D.; Beard, B. C.; Wu, R. A.; Ironside, C.; Malik, P.; Kiem, H. P.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS ONE, 2012, 7, 9, pp e45173
Abstract

Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia and had been treated for presumed immune-mediated...

Author(s)
Juvet, F.; Giger, U.; Battersby, I.; Menaut, P.; Syme, H. M.; Mooney, C. T.
Publisher
BioMed Central Ltd, London, UK
Citation
Irish Veterinary Journal, 2013, 66, 12, pp (10 July 2013)
Abstract

Background: Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs. Objectives: To report 3 new breed-specific PK-LR gene mutations and a retrospective survey of PK mutations in a small and selected group of Beagles and...

Author(s)
Gultekin, G. I.; Raj, K.; Foureman, P.; Lehman, S.; Manhart, K.; Abdulmalik, O.; Giger, U.
Publisher
Wiley-Blackwell, Boston, USA
Citation
Journal of Veterinary Internal Medicine, 2012, 26, 4, pp 935-944
Abstract

Inherited erythrocytic pyruvate kinase (PK) deficiency is an autosomal recessive hemolytic disorder described in dogs and cats. Pyruvate kinase is one of two key-regulatory enzymes in the anaerobic glycolytic pathway, and its deficiency causes premature destruction of the ATP-depleted red cells....

Author(s)
Hlavac, N. R. C.; Lacerda, L. A.; Conrado, F. O.; Hünning, P. S.; Seibert, M.; González, F. H. D.; Giger, U.
Publisher
Facultad de Ciencias Veterinarias, Universidad Austral de Chile, Valdivia, Chile
Citation
Archivos de Medicina Veterinaria, 2012, 44, 2, pp 195-200
Abstract

This article describes the aetiology, pathogenesis, clinical signs, diagnosis and treatment of hereditary blood diseases in cats and dogs.

Author(s)
Giger, U.
Publisher
Royal Canin Ltd (UK and Ireland), Castle Cary, UK
Citation
Veterinary Focus, 2018, 28, 2, pp 32-38
Abstract

Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy....

Author(s)
Brooks, E. D.; Yi HaiQing; Austin, S. L.; Thurberg, B. L.; Young, S. P.; Fyfe, J. C.; Kishnani, P. S.; Sun BaoDong
Publisher
American Association for Laboratory Animal Science, Memphis, USA
Citation
Comparative Medicine, 2016, 66, 1, pp 41-51
Abstract

Deficiencies of enzymes involved in erythrocyte metabolism can have significant effects on erythrocyte function and survival. Animals with pyruvate kinase (PK) or phosphofructokinase (PFK) deficiencies have shortened erythrocyte life spans and regenerative anemia. PK-deficient dogs (but not...

Author(s)
Harvey, J. W.
Publisher
American Society for Veterinary Clinical Pathology, Madison, USA
Citation
Veterinary Clinical Pathology, 2006, 35, 2, pp 144-156
Abstract

Erythrocyte enzyme deficiencies have significant effects on function and survival. Animals with pyruvate kinase (PK) deficiency and phosphofructokinase deficiency (PFK) have a shortened half life and regenerative anaemia. Cytochrome b5 deficiency in dogs and cats results to persistent...

Author(s)
Piperisová, I.
Publisher
Profi Press, s.r.o., Praha, Czech Republic
Citation
Veterinářství, 2008, 58, 9, pp 542-545
Abstract

The disease-causing mutation in West Highland White Terriers (WHWT) with erythrocyte pyruvate kinase (R-PK) deficiency was defined and a genetic test capable of recognizing affected (homozygous) and carrier (heterozygous) dogs was designed. Complementary DNA from R-PK-deficient WHWT was cloned and...

Author(s)
Skelly, B. J.; Wallace, M.; Rajpurohit, Y. R.; Wang Ping; Giger, U.
Citation
American Journal of Veterinary Research, 1999, 60, 9, pp 1169-1172
Abstract

Author(s)
Owen, J. L.; Harvey, J. W.
Publisher
W.B. Saunders, Philadelphia, USA
Citation
Veterinary Clinics of North America, Small Animal Practice, 2012, 42, 1, pp 73-84

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