(Q72552412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8218542%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency (English)

1 reference

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27 October 2019

1 reference

O Shalev

1

1 reference

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27 October 2019

R S Shalev

series ordinal

2

1 reference

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27 October 2019

L Forman

series ordinal

3

1 reference

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27 October 2019

E Beutler

series ordinal

4

1 reference

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27 October 2019

publication date

1 October 1993

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27 October 2019

1 reference

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27 October 2019

volume

67

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27 October 2019

issue

4

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27 October 2019

page(s)

197-200

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Unique phenotypic expression of glucosephosphate isomerase deficiency

27 October 2019

cites work

1 reference

12 December 2020

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

1 reference

12 December 2020

Glucose phosphate isomerase type Recklinghausen: a new enzyme variant with haemolytic anaemia (author's transl)

1 reference

12 December 2020

Inherited variations in human phosphohexose isomerase

1 reference

12 December 2020

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden

1 reference

12 December 2020

Glucose phosphate isomerase deficiency as a cause of hydrops fetalis

1 reference

12 December 2020

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

1 reference

12 December 2020

Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies

1 reference

12 December 2020

Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia

1 reference

12 December 2020

Haematological studies in a new variant of glucosephosphate isomerase deficiency (GPI Utrecht)

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and characterization of human glucose-6-phosphate isomerase isoforms containing two different size subunits

1 reference

12 December 2020

PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system

1 reference

12 December 2020

Occurrence of Defective Hexosephosphate Isomerization in Human Erythrocytes and Leukocytes

1 reference

12 December 2020

A New Variant of Glucosephosphate Isomerase Deficiency with Mild Haemolytic Anaemia (GPI-MYTHO)

1 reference

12 December 2020

Ultrastructural and histochemical abnormalities of skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency

1 reference

12 December 2020

Glucosephosphate-Isomerase (GPI) Deficiency: GPI Elyria

1 reference

12 December 2020

The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Haemolytic Anaemia Associated with Glucosephosphate Isomerase (GPI) Deficiency in a Black South African Child

1 reference

12 December 2020

Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto

1 reference

12 December 2020

Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia

1 reference

12 December 2020

Glucose-6-phosphate isomerase deficiency-Nahariya: extreme in vitro and in vivo lability of the mutant enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

A new mutant erythrocyte glucosephosphate isomerase (GPI) associated with GSH abnormality

1 reference

12 December 2020

'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A New variant of glucosephosphate isomerase deficiency: GPI-kortrijk

1 reference

12 December 2020

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).

1 reference

12 December 2020

[Hereditary non-spherocytic hemolytic anemia caused by glucosephosphate isomerase deficiency: 1. case observed in Switzerland]

1 reference

12 December 2020

Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01695868

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8218542%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference