(Q42876613)

9 November 2017

title

Red cell pyruvate kinase deficiency in Southern Sardinia (English)

1 reference

pyruvate kinase deficiency

9 November 2017

main subject

1 reference

L. Perseu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

N. Giagu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

S. Satta

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

M. C. Sollaino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

R. Congiu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

R. Galanello

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20870434

20 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20870434

20 July 2024

publication date

25 September 2010

1 reference

full work available at URL

9 November 2017

https://api.elsevier.com/content/article/PII:S1079979610002044?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

https://api.elsevier.com/content/article/PII:S1079979610002044?httpAccept=text/plain

20 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Blood Cells, Molecules and Diseases

20 July 2024

published in

1 reference

9 November 2017

volume

45

1 reference

9 November 2017

issue

4

1 reference

9 November 2017

page(s)

280-283

1 reference

A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia

9 November 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.

20 July 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia

20 July 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Red cell pyruvate kinase deficiency: molecular and clinical aspects

20 July 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia

20 July 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

20 July 2024

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1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients

20 July 2024

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1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

20 July 2024

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1 reference

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Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases

20 July 2024

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Simultaneous automated determination of glucose 6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood

20 July 2024

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Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.

20 July 2024

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Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia

20 July 2024

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Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia

20 July 2024

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

20 July 2024

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The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

20 July 2024

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Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia

20 July 2024

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Hydrops fetalis associated with red cell pyruvate kinase deficiency

20 July 2024

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1 reference

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Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

20 July 2024

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1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

20 July 2024

25

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2010.08.006

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

20 July 2024

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Iron status in red cell pyruvate kinase deficiency: study of Italian cases.

20 July 2024

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Serum ferritin levels in thalassemias and the effect of splenectomy

20 July 2024

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1 reference

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Unexpectedly high but still asymptomatic iron overload in a patient with pyruvate kinase deficiency

20 July 2024

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Heterogeneity of hemochromatosis in Italy

20 July 2024

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20 July 2024

Identifiers

1 reference

9 November 2017

1 reference