Abstract:
:The heterogeneity of pyruvate kinase (PK) deficiency associated with hereditary haemolytic anaemia is emphasized by studies of a kindred harbouring two distinct mutant forms of this enzyme, both of which were kinetically defective with markedly decreased affinities for the substrate, phosphoenolypyruvate. The two isoenzymes, designated PK-Vancouver1 and PK-Vancouver2, were primarily distinguishable from one another by differences in maximum in vitro activities and by variations in response to fructose-I,6-diphosphate activation. When combined in proband erythrocytes to the exclusion of any normal PK, the isoenzymes were associated with a severe chronic haemolytic process with many of the features of PK deficiency of the more common quantitative type. Clinical laboratory screening tests for detecting PK deficiency may be falsely negative or equivocal in such cases.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Pagila DE,Gray GR,Growe GH,Valentine WNdoi
10.1111/j.1365-2141.1976.tb00174.xsubject
Has Abstractpub_date
1976-09-01 00:00:00pages
61-8issue
1eissn
0007-1048issn
1365-2141journal_volume
34pub_type
杂志文章abstract::Distinguishing Burkitt lymphoma (BL) from B cell lymphoma, unclassifiable with features intermediate between diffuse large B-cell lymphoma (DLBCL) and BL (DLBCL/BL), and DLBCL is challenging. We propose an immunohistochemistry and fluorescent in situ hybridization (FISH) based scoring system that is employed in three ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2141.2011.08771.x
更新日期:2011-09-01 00:00:00
abstract::The anti-cancer drug arsenic trioxide (AT) induces apoptosis in a variety of transformed or proliferating cells. However, little is known regarding its ability to induce apoptosis in terminally differentiated cells, such as neutrophils. Because neutropenia has been reported in some cancer patients after AT treatment, ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05866.x
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abstract::Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations of the iron regulatory element (IRE) in the ferritin l-chain mRNA. The mutations are rare and fast DNA scanning would facilitate diagnosis. The aim of the study was to compare the analytical performances...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2003-04-01 00:00:00
abstract::Two cases of Ph1-positive chronic granulocytic leukaemia with hitherto undescribed translocations are presented. In case 1 the deleted part of chromosome number 22q- was translocated to the short arm of the X chromosome, t(X;22)(p22;q11). Pronounced basophilia, trisomy 19 in the majority of metaphases, and a partial c...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb05847.x
更新日期:1979-02-01 00:00:00
abstract::B-cell clonality analysis is commonly performed by polymerase chain reaction (PCR) targeting the IGH genes although a high false-negative rate is recognized for germinal centre/post-germinal centre B-cell malignancies, especially follicular lymphoma. We assessed the diagnostic value of BIOMED-2 IGK assays and investig...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2011.08803.x
更新日期:2011-10-01 00:00:00
abstract::Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms, to life-threatening neonatal anaemia and jaundice necessitating ex...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
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doi:10.1111/j.1365-2141.2009.07631.x
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.17225
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::Significant increases in prolyl hydroxylase activity, a key enzyme in the collagen biosynthetic pathway, were noted in the hepatic homogenates of iron-loaded animals as compared to controls. The increase in prolyl hydroxylase activity was seen without any light microscopic histologic evidence of cell necrosis or accum...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:1985-02-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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abstract::The recent advent of an improved commercial serum enzyme-linked immunosorbent assay (ELISA) for the detection of circulating galactomannan (GM), a major constituent of Aspergillus cell walls, has contributed to the diagnosis of invasive aspergillosis (IA) in many haematology and transplant centres. However, the optima...
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1679.x
更新日期:1996-06-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00711.x
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journal_title:British journal of haematology
pub_type: 杂志文章,评审
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journal_title:British journal of haematology
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doi:10.1046/j.1365-2141.1999.01194.x
更新日期:1999-02-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:1990-06-01 00:00:00
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2002-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2002-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2009-04-01 00:00:00
abstract::We evaluated the additional benefit of Technetium(99)-sestamibi (99mTc-MIBI) scanning in comparison with standard X-ray techniques for multiple myeloma patients either at diagnosis or during follow-up. Between February 2001 and January 2005, 397 whole body scans were acquired. On 229 scans performed at diagnosis, 146 ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2141.2006.06489.x
更新日期:2007-03-01 00:00:00
abstract::The maintenance of physiological levels of haemoglobin is beneficial in the management of patients with thalassaemia major since it leads to better tissue oxygenation, reduction of blood volume, and reduced intestinal absorption of iron. We have studied 11 patients with thalassaemia major while treating them for 4-12 ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb03867.x
更新日期:1982-09-01 00:00:00