Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency

British Journal of Haematology

Volumn 152, Issue 4, 2011, Pages 500-502

  Rhodes, Melissa ^a   Ashford, Linda ^b   Manes, Becky ^b   Calder, Cassie ^b   Domm, Jennifer ^b   Frangoul, Haydar ^b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

Author keywords

Bone marrow transplant; Hemolytic anemia; Phosphoglycerate kinase defeciency

Indexed keywords

BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; ETIRACETAM; HEMOGLOBIN; METHOTREXATE; PHOSPHOGLYCERATE KINASE; THYMOCYTE ANTIBODY;

ACUTE GRAFT VERSUS HOST DISEASE; ADOLESCENT; ANEMIA; ATAXIC APHASIA; BONE MARROW TRANSPLANTATION; CASE REPORT; CHILD; COMPLEX PARTIAL SEIZURE; ENZYME DEFICIENCY; FEVER; GRAFT VERSUS HOST REACTION; HEADACHE; HEMIPLEGIA; HEMOGLOBIN BLOOD LEVEL; HUMAN; LETTER; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; PHOSPHOGLYCERATE KINASE DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; SCHOOL CHILD; SOMNOLENCE;

ADOLESCENT; ANEMIA, HEMOLYTIC, CONGENITAL; BONE MARROW TRANSPLANTATION; CHILD; GENETIC DISEASES, X-LINKED; HUMANS; MALE; PHOSPHOGLYCERATE KINASE;

EID: 78851470019     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08474.x     Document Type: Letter

References (8)

1. Beutler, E. (2007) PGK deficiency. British Journal Haematology, 136, 3-11.
2. Boelens, J.J. (2006) Trends in haematopoietic cell transplantation for inborn errors of metabolism. Journal of Inherited Metabolic Disease, 29, 413-420.
3. Cohen-Solal, M., Valentin, C., Plassa, F., Guillemin, G., Danze, F., Jaisson, F. & Rosa, R. (1994) Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens. Blood, 84, 898-903.
4. Flanagan, J.M., Rhodes, M., Wilson, M. & Beutler, E. (2006) The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. British Journal of Haematology, 134, 233-237.
5. Kramer, J.H., Crittenden, M.R., DeSantes, K. & Cowan, M.J. (1997) Cognitive and adaptive behavior 1 and 3years following bone marrow transplantation. Bone Marrow Transplantation, 19, 607-613.
6. Malatack, J.J., Consolini, D.M. & Bayever, E. (2003) The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatric Neurology, 29, 391-403.
7. Prasad, V.K. & Kurtzberg, J. (2010) Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. British Journal Haematology, 148, 356-372.
8. Turner, G., Fletcher, J., Elber, J., Yanagawa, Y., Dave, V. & Yoshida, A. (1995) Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. British Journal Haematology, 91, 60-65.