(Q33424930)

26 July 2017

Haematological abnormalities in mitochondrial disorders (English)

1 reference

26 July 2017

Josef Finsterer

1

1 reference

PubMed ID

26243978

26 July 2017

Marlies Frank

series ordinal

2

1 reference

26 July 2017

1 July 2015

1 reference

Singapore Medical Journal

26 July 2017

1 reference

26 July 2017

56

1 reference

26 July 2017

7

1 reference

26 July 2017

412-419

1 reference

A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Inherited mitochondrial disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Ring sideroblasts and sideroblastic anemias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Accumulating mitochondrial DNA mutations drive premature hematopoietic aging phenotypes distinct from physiological stem cell aging

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Hereditary sideroblastic anemia: pathophysiology and gene mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

A neurological perspective on mitochondrial disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Reversible thrombocytopenia and polyneuropathy: the pleiotropic aspects of hypothyroidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Pearson syndrome in the neonatal period: two case reports and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Novel genetic etiologies of severe congenital neutropenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Multi-system mitochondrial disorder with recurrent steroid-responsive eosinophilia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Hematological manifestations of primary mitochondrial disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Mitochondria in hematopoiesis and hematological diseases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Leber's hereditary optic neuropathy and vitamin B12 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Adult Leigh syndrome with mitochondrial DNA mutation at 8993.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiation.

21 June 2018

1 reference

https://api.crossref.org/works/10.11622%2FSMEDJ.2015112

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.11622%2FSMEDJ.2015112

Mitochondrial iron metabolism and sideroblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.11622%2FSMEDJ.2015112

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520921

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

31 October 2018

1 reference

https://api.crossref.org/works/10.11622%2FSMEDJ.2015112

Clinical manifestations and management of four children with Pearson syndrome

21 January 2018

1 reference

12 December 2020

Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion

1 reference

12 December 2020

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts

1 reference

12 December 2020

Aplastic anaemia in association with Kearns-Sayre syndrome

1 reference

12 December 2020

Chronic anemia as a manifestation of MELAS syndrome

1 reference

12 December 2020

[Pearson syndrome. Case report]

1 reference

12 December 2020

Identifiers

DOI

10.11622/SMEDJ.2015112

1 reference

26 July 2017

1 reference

26 July 2017

1 reference

PubMed ID

26243978