(Q37789669)

23 August 2017

title

Hereditary sideroblastic anemia: pathophysiology and gene mutations (English)

1 reference

Hereditary sideroblastic anemia

23 August 2017

1 reference

1 reference

2

Kazumichi Furuyama

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20848343

15 July 2024

author name string

Hideo Harigae

series ordinal

1

1 reference

23 August 2017

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=20848343

15 July 2024

publication date

17 September 2010

1 reference

full work available at URL

23 August 2017

http://link.springer.com/content/pdf/10.1007/s12185-010-0688-4.pdf

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S12185-010-0688-4

http://link.springer.com/article/10.1007/s12185-010-0688-4/fulltext.html

15 July 2024

1 reference

https://api.crossref.org/works/10.1007/S12185-010-0688-4

http://link.springer.com/content/pdf/10.1007/s12185-010-0688-4

15 July 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S12185-010-0688-4

International Journal of Hematology

15 July 2024

published in

1 reference

23 August 2017

volume

92

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23 August 2017

issue

3

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23 August 2017

page(s)

425-431

1 reference

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

23 August 2017

cites work

1 reference

12 December 2020

Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts

1 reference

12 December 2020

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

1 reference

12 December 2020

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

1 reference

12 December 2020

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

1 reference

12 December 2020

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

1 reference

12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

12 December 2020

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

1 reference

12 December 2020

Heme as a magnificent molecule with multiple missions: heme determines its own fate and governs cellular homeostasis

1 reference

12 December 2020

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

1 reference

12 December 2020

Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes

1 reference

12 December 2020

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts

1 reference

12 December 2020

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

1 reference

12 December 2020

Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload

1 reference

12 December 2020

Late-onset X-linked sideroblastic anemia following hemodialysis

1 reference

12 December 2020

Identifiers

DOI

1 reference

23 August 2017

1 reference