(Q53414297)

14 May 2018

title

Erythrocyte pyruvate kinase deficiency: 11 new cases (English)

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

pyruvate kinase deficiency

7 January 2023

main subject

1 reference

A. Zanella

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

M. B. Colombo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

R. Miniero

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

L. Perroni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

T. Meloni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

G. Sirchia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3408673

7 January 2023

language of work or name

English

0 references

publication date

1 July 1988

1 reference

14 May 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2141.1988.tb02380.x

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1988.tb02380.x/fullpdf

7 January 2023

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

British Journal of Haematology

7 January 2023

published in

1 reference

14 May 2018

volume

69

1 reference

14 May 2018

issue

3

1 reference

14 May 2018

page(s)

399-404

1 reference

14 May 2018

Pyruvate kinase deficiency: characterization of two new genetic variants.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1988.TB02380.X

Erythrocytic pyruvate kinase deficiency and hemolytic anemia inherited as a dominant trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1988.TB02380.X

Thirteen cases of pyruvate kinase deficiency found in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1988.TB02380.X

Erythrocyte pyruvate kinase deficiency: characterization of a new variant (PK "Aarau").

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1988.TB02380.X

Pyruvate kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1988.TB02380.X

Coexistence of alpha-thalassemia and a new pyruvate kinase variant: PK Fukien

21 January 2018

3

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Neonatal Hemolysis Due to a Transient Severity of Inherited Pyruvate Kinase Deficiency

7 January 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Haemolytic anaemia due to pyruvate-kinase deficiency

7 January 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Erythrocyte isolation from blood with cotton

7 January 2023

6

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Inherited Erythrocyte Pyruvate Kinase Deficiency: Studies on 15 Members of Two Related Families

7 January 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Three pyruvate kinase variants with increased affinity for PEP

7 January 2023

11

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

7 January 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression

7 January 2023

17

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Seven pyruvate kinase variants characterized by the ICSH recommended methods

7 January 2023

20

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

American Journal of Human Genetics

7 January 2023

21

36

634

Muir W.A.

1984

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

EXTREME HEMOLYSIS AND RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY. I. MORPHOLOGY, ERYTHROKINETICS AND FAMILY ENZYME STUDIES

7 January 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-"Gainesville," PK-"San Juan," and PK-"Cape Canaveral"

7 January 2023

23

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Molecular lesion affecting the ADP-combining site in a mutant isozyme of erythrocyte pyruvate kinase

7 January 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Identification of an Erythrocyte Pyruvate Kinase Variant in a Family from Latium with Non-Spherocytic Congenital Haemolytic Anaemia

7 January 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Increased transferrin iron saturation in splenectomized thalassaemic patients

7 January 2023

26

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Characterization of glucose-6-phosphate dehydrogenase in Sardinian children with congenital nonspherocytic haemolytic anaemia

7 January 2023

27

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity

7 January 2023

28

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Pyruvate kinase deficiency hemolytic anemia: enzymatic characterization studies in twelve patients

7 January 2023

29

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

A pyruvate kinase variant with an increased affinity for phosphoenolpyruvate in an individual with congenital non-spherocytic haemolytic anaemia

7 January 2023

30

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Extreme deficiency of L-type pyruvate kinase with moderate clinical expression

7 January 2023

31

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Pyruvate kinase and the "high ATP syndrome".

7 January 2023

32

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients

7 January 2023

36

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Nonspherocytic haemolytic anaemia and severe jaundice in a newborn with partial pyruvate kinase deficiency

7 January 2023

37

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Effects of sulphydryl compounds on abnormal red cell pyruvate kinase

7 January 2023

38

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Concomitance of an Active and an Inactive Mutant of Red Cell Pyruvate Kinase (PK)

7 January 2023

39

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology

7 January 2023

40

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1988.TB02380.X

7 January 2023

Identifiers

1 reference

14 May 2018

1 reference

14 May 2018