(Q34556996)

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Sideroblastic anaemias

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scholarly article

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Europe PubMed Central

3 August 2017

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Europe PubMed Central

Sideroblastic anaemias (English)

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Europe PubMed Central

3 August 2017

author name string

Thierry Alcindor

1

1 reference

Europe PubMed Central

3 August 2017

Kenneth R Bridges

2

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Europe PubMed Central

3 August 2017

language of work or name

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publication date

1 March 2002

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Europe PubMed Central

3 August 2017

British Journal of Haematology

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Europe PubMed Central

3 August 2017

116

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Europe PubMed Central

3 August 2017

4

1 reference

Europe PubMed Central

3 August 2017

733-743

1 reference

Europe PubMed Central

3 August 2017

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Reversible Sideroblastic Anemia Caused by Chloramphenicol

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Animal mitochondrial genomes

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Thiamine-responsive anemia in DIDMOAD syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Congenital sideroblastic anaemia in two girls

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

5-Aminolevulinate synthase and the first step of heme biosynthesis

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Sideroblastic anaemia with iron overload presenting as an arthropathy.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Two types of acquired idiopathic sideroblastic anaemia (AISA)

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Lead toxicity: current concerns

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Superoxide-dependent formation of hydroxyl radicals in the presence of iron salts. Detection of ‘free’ iron in biological systems by using bleomycin-dependent degradation of DNA

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Pyridoxine responsive hereditary sideroblastic erythropoiesis and iron overload: two microcytic subpopulations in the affected male, one normocytic and one microcytic subpopulation in the obligate female carrier

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Purification of all forms of HeLa cell mitochondrial DNA and assessment of damage to it caused by hydrogen peroxide treatment of mitochondria or cells.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Implications of recent insights into the pathophysiology of paroxysmal nocturnal haemoglobinuria.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Studies on the Pathogenesis of Alcohol-Induced Sideroblastic Bone-Marrow Abnormalities

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Redefining endometriosis: is deep endometriosis a progressive disease?

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Homologous nuclear-encoded mitochondrial and cytosolic isoproteins. A review of structure, biosynthesis and genes

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

cis-trans models for post-transcriptional gene regulation

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Sideroblastic anemias: variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Haem Synthesis in Sideroblastic Anaemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

The discovery of the division apparatus of plastids and mitochondria

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Pyridoxal 5'-phosphate and pyridoxamine 5'-phosphate concentrations in blood and tissues of mice fed ethanol-containing liquid diets.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Ubiquinol:cytochrome c oxidoreductase (complex III). Effect of inhibitors on cytochrome b reduction in submitochondrial particles and the role of ubiquinone in complex III.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Sideroblastic anaemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Recurrent thrombocytopenia, erythroid hypoplasia and sideroblastic anaemia associated with hypothermia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Lipid peroxidation products mediate the formation of 8-hydroxydeoxyguanosine in DNA

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

The "ferrous-oxy" intermediate in the reaction of dioxygen with fully reduced cytochromes aa3 and bo3.

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Refined chromosome study helps define prognostic subgroups in most patients with primary myelodysplastic syndrome and acute myelogenous leukaemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Observations on the anemia and neutropenia of human copper deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.0007-1048.2002.03378.X

21 January 2018

Identifiers

10.1046/J.0007-1048.2002.03378.X

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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