(Q28591290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

Phosphofructokinase, muscle

5 February 2020

main subject

1 reference

GOA release 2020-03-11

author

Anna Pujol

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Efrén Riu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Fatima Bosch

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Miguel García

1

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Albert Ruzo

3

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Jesús Ruberte

5

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Anna Arbós

6

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Anna Serafín

7

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Beatriz Albella

8

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Juan Emilio Felíu

9

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

publication date

21 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

5

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

e1000615

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

8

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

5 February 2020

copyright license

start time

21 August 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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17 March 2017

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Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency

17 March 2017

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Inactivation of phosphofructokinase by glucagon in rat hepatocytes

17 March 2017

1 reference

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17 March 2017

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Overexpression of the cytosolic form of phosphoenolpyruvate carboxykinase (GTP) in skeletal muscle repatterns energy metabolism in the mouse

7 April 2017

1 reference

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Fuel economy in food-deprived skeletal muscle: signaling pathways and regulatory mechanisms.

29 September 2017

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Respiratory involvement in inherited primary muscle conditions

29 September 2017

1 reference

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PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

29 September 2017

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

29 September 2017

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29 September 2017

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Phosphofructokinase deficiency; past, present and future

29 September 2017

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Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

29 September 2017

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Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes

29 September 2017

1 reference

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Anaplerosis of the citric acid cycle: role in energy metabolism of heart and skeletal muscle

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII

29 September 2017

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29 September 2017

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29 September 2017

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3 June 2018

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3 June 2018

1 reference

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21 January 2018

1 reference

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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HIF-independent regulation of VEGF and angiogenesis by the transcriptional coactivator PGC-1α

27 November 2018

1 reference

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Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes

21 January 2018

1 reference

12 December 2020

Abnormal high-energy phosphate metabolism in human muscle phosphofructokinase deficiency

1 reference

12 December 2020

Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow transplantation without host irradiation

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12 December 2020

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

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12 December 2020

Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency

1 reference

12 December 2020

In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency

1 reference

12 December 2020

Cytochemical demonstration of succinic dehydrogenase by the use of a new p-nitrophenyl substituted ditetrazole

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12 December 2020

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12 December 2020

Cardiovascular effects of splenomegaly and splenectomy in beta-thalassemia

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12 December 2020

Fatal infantile muscle phosphorylase deficiency

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12 December 2020

10.1371/JOURNAL.PGEN.1000615

Identifiers

DOI

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19696889%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2 references

31 January 2017