Literature DB >> 3796702

Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.

Y Ravindranath, D E Paglia, I Warrier, W Valentine, M Nakatani, R A Brockway.   

Abstract

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Year:  1987        PMID： 3796702     DOI： 10.1056/NEJM198701293160506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

1.  An infant with chronic hemolytic anemia.

Authors:  Gülen Tüysüz; Gül Nihal Özdemir; Tiraje Celkan
Journal:  Turk Pediatri Ars       Date:  2014-09-01

2.  Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.

Authors:  Shruti Bagla; Kanta Bhambhani; Manisha Gadgeel; Steven Buck; Jian-Ping Jin; Yaddanapudi Ravindranath
Journal:  Haematologica       Date:  2019-04-04       Impact factor: 9.941

3.  Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.

Authors:  Prabhakar S Kedar; Rashmi Dongerdiye; Pooja Chilwirwar; Vinod Gupta; Ashish Chiddarwar; Rati Devendra; Prashant Warang; Harsha Prasada; Abhilasha Sampagar; Sunil Bhat; S Chandrakala; Manisha Madkaikar
Journal:  Indian J Pediatr       Date:  2019-04-27       Impact factor: 1.967

4.  Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.

Authors:  Prashant Warang; Prabhakar Kedar; Kanjaksha Ghosh; Roshan B Colah
Journal:  Int J Hematol       Date:  2012-07-11       Impact factor: 2.490

5.  Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.

Authors:  Yumei Zu; Hui Wang; Weijia Lin; Chaochun Zou
Journal:  BMC Pediatr       Date:  2022-08-01       Impact factor: 2.567

6.  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

Review 7.  Diagnosis of inherited disorders of liver metabolism.

Authors:  P T Clayton
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Fetal anaemia due to pyruvate kinase deficiency.

Authors:  F Gilsanz; M A Vega; E Gómez-Castillo; J A Ruiz-Balda; F Omeñaca
Journal:  Arch Dis Child       Date:  1993-11       Impact factor: 3.791

9.  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

10.  Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report.

Authors:  Phebe N Adama van Scheltema; Ai Zhang; Lynne M Ball; Sylke J Steggerda; Richard van Wijk; Dietje E Fransen van de Putte; Inge L van Kamp
Journal:  Clin Case Rep       Date:  2015-09-07
  10 in total

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