Literature DB >> 1339

A new variant of glucosephosphate isomerase deficiency.

J P Van Biervliet, A Vlug, H Bartstra, J J Rotteveel, G A de Vaan, G E Staal.   

Abstract

A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.

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Year:  1975        PMID： 1339     DOI： 10.1007/BF00273629

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  10 in total

1.  Unique phenotypic expression of glucosephosphate isomerase deficiency.

Authors:  D E Paglia; R Paredes; W N Valentine; S Dorantes; P N Konrad
Journal:  Am J Hum Genet       Date:  1975-01       Impact factor: 11.025

2.  A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).

Authors:  J P Van Biervliet; L Van Milligen-Boersma; G E Staal
Journal:  Clin Chim Acta       Date:  1975-12-01       Impact factor: 3.786

Review 3.  Hereditary glucosephosphate isomerase deficiency. A review.

Authors:  D E Paglia; W N Valentine
Journal:  Am J Clin Pathol       Date:  1974-12       Impact factor: 2.493

4.  Qualitative and quantitative variants of human phosphoglucose isomerase.

Authors:  S G Welch
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

5.  Rapid detection of 6-phosphogluconate dehydrogenase variants by electrophoresis on cellulose acetate gel.

Authors:  P Meera Khan; M C Rattazzi
Journal:  Biochem Genet       Date:  1968-11       Impact factor: 1.890

6.  [Clinical and biochemical studies of glucosephosphate isomerase of normal human erythrocytes and in glucosephosphate isomerase deficiency].

Authors:  H Arnold; K G Blume; D Busch; U Lenkeit; G W Löhr; E Lübs
Journal:  Klin Wochenschr       Date:  1970-11-01

7.  Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies.

Authors:  W Schröter; H H Koch; B Wonneberger; W Kalinowsky; A Arnold; K G Blume; W Hüther
Journal:  Pediatr Res       Date:  1974-01       Impact factor: 3.756

8.  Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency.

Authors:  K Nakashima; S Miwa; S Oda; E Oda; N Matsumoto
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

9.  Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.

Authors:  M A Baughan; W N Valentine; D E Paglia; P O Ways; E R Simons; Q B DeMarsh
Journal:  Blood       Date:  1968-08       Impact factor: 22.113

10.  Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia.

Authors:  K G Blume; W Hryniuk; D Powars; F Trinidad; C West; E Beutler
Journal:  J Lab Clin Med       Date:  1972-06
  10 in total
  5 in total

1.  Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.

Authors:  J J Rotteveel; G A de Vaan; G E Staal; J P van Biervliet; E D Schretlen
Journal:  Eur J Pediatr       Date:  1977-04-26       Impact factor: 3.183

2.  Biochemical genetics of a new glucosephosphate isomerase allele (Gpi-1c) from wild mice.

Authors:  R A Padua; G Bulfield; J Peters
Journal:  Biochem Genet       Date:  1978-02       Impact factor: 1.890

Review 3.  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

4.  Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia.

Authors:  H Arnold; J Dodinval-Versie; C Lambotte; G W Löhr; J van der Hofstadt
Journal:  Blut       Date:  1977-09-29

5.  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
  5 in total

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