Literature DB >> 4832160

Glucosephosphate-isomerase (GPI) deficiency: GPI elyria.

E Beutler, W H Sigalove, W A Muir, F Matsumoto, C West.   

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Year:  1974        PMID： 4832160     DOI： 10.7326/0003-4819-80-6-730

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN： 0003-4819            Impact factor:   25.391


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  10 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency.

Authors:  H Arnold
Journal:  Blut       Date:  1979-12

3.  GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency.

Authors:  O Shalev; R S Shalev; L Forman; E Beutler
Journal:  Ann Hematol       Date:  1993-10       Impact factor: 3.673

4.  Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family.

Authors:  H Arnold; G W Löhr; K Hasslinger; T Podgajny
Journal:  Blut       Date:  1980-02

Review 5.  [Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].

Authors:  H D Waller; H C Benöhr
Journal:  Klin Wochenschr       Date:  1976-09-01

6.  The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.

Authors:  W Xu; E Beutler
Journal:  J Clin Invest       Date:  1994-12       Impact factor: 14.808

7.  Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.

Authors:  A G Whitelaw; P A Rogers; D A Hopkinson; H Gordon; P M Emerson; J H Darley; C Reid; M A Crawfurd
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

8.  Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.

Authors:  A Kahn; H A Buc; R Girot; D Cottreau; C Griscelli
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

9.  Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Authors:  Yingchao Liu; Chanjuan Hao; Kechun Li; Xuyun Hu; Hengmiao Gao; Jiansheng Zeng; Ruolan Guo; Jun Liu; Jun Guo; Zheng Li; Zhan Qi; Xinlei Jia; Wei Li; Suyun Qian
Journal:  Front Genet       Date:  2021-09-01       Impact factor: 4.599

10.  Case report: Glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head.

Authors:  Zhenqi Song; Kongjian Wang; Djandan Tadum Arthur; Zhongwen Tang; Feng Xiang; Jie Wen; Sheng Xiao
Journal:  Front Pediatr       Date:  2022-08-30       Impact factor: 3.569
  10 in total

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