Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts (Q35765222)

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scientific article published on October 1995

Language	Label	Description	Also known as
English	Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts	scientific article published on October 1995

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

refractory anemia

1 reference

based on heuristic

inferred from title

author name string

P D Cotter

1

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

A May

2

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Europe PubMed Central

PubMed publication ID

10 August 2017

E J Fitzsimons

3

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

T Houston

4

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

B E Woodcock

5

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

A I al-Sabah

6

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

L Wong

7

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

D F Bishop

8

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

language of work or name

0 references

publication date

1 October 1995

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Europe PubMed Central

PubMed publication ID

10 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

96

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Europe PubMed Central

PubMed publication ID

10 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

2090-2096

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Europe PubMed Central

PubMed publication ID

10 August 2017

PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

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

1 reference

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2 October 2017

Fluorescein isothiocyanate-labeled casein assay for proteolytic enzymes

1 reference

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2 October 2017

Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder

1 reference

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2 October 2017

Sideroblasts in myelodysplasia: their nature and clinical significance.

1 reference

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2 October 2017

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

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2 October 2017

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

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2 October 2017

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

Effect of aging on vitamin B6 status and metabolism

1 reference

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2 October 2017

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

Idiopathic refractory sideroblastic anemiaIncidence and risk factors for leukemic transformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

Pilot scale purification of α-galactosidase A from Cohn Fraction IV-1 of human plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

2 October 2017

The putative iron-responsive element in the human erythroid 5-aminolevulinate synthase mRNA mediates translational control.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

Two types of acquired idiopathic sideroblastic anaemia (AISA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

Two types of acquired idiopathic sideroblastic anaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

An assay for delta-aminolevulinic acid synthetase based on a specific, semiautomatic determination of picomole quantities of delta-[14C]aminolevulinate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

12 July 2018

Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185849

25 September 2018

Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SIDEROBLASTIC ANAEMIA IN MAN: OBSERVATIONS ON SEVENTY CASES

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maturation of the head of bacteriophage T4. I. DNA packaging events

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyridoxine-responsive primary acquired sideroblastic anaemia. In vitro and in vivo effects of vitamin B6 on decreased 5-aminolaevulinate synthase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyridoxal phosphate protects against an irreversible temperature-dependent inactivation of hepatic delta-aminolevulinic acid synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of 5-aminolevulinic acid synthase activity in whole and fractionated human bone marrow: effect of myeloid cell lysis by monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of the myelodysplastic syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minimal diagnostic criteria for the myelodysplastic syndrome in clinical practice

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of acquired idiopathic sideroblastic anaemia (AISA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic evidence that deficiencies of vitamin B-12 (cobalamin), folate, and vitamin B-6 occur commonly in elderly people

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118258

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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