X-Linked Sideroblastic Anemia Caused by ALAS2 Intron 1 Mutation Successfully Treated by Allogenic Hematopoietic Stem Cell Transplant.

X-Linked Sideroblastic Anemia Induced by a Novel ALAS2 Nonsense Mutation: A Case Report and Literature Review.

[Emerging perspectives on sideroblastic anemia].

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study.

X-linked sideroblastic anemia in females.

SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.

An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.

[Pathophysiology of sideroblastic anemia].

Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.

Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.

Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling.

Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports.

Erythropoiesis-hepcidin-iron axis in patients with X-linked sideroblastic anaemia: An explorative biomarker study.

Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia.

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes.

Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

Iron Metabolism in the Disorders of Heme Biosynthesis.

[Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders].

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.

Structural basis for dysregulation of aminolevulinic acid synthase in human disease.

Cryo-EM structure of AMP-PNP-bound human mitochondrial ATP-binding cassette transporter ABCB7.

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.

36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload.

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.

A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review.

Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients.

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.

Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.

Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia.

[A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation].

Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Heme biosynthesis and the porphyrias.

Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

[Molecular pathophysiology of sideroblastic anemia].

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.

Establishment of a cell model of X-linked sideroblastic anemia using genome editing.

[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.

A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.

A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.

Renal manifestations of primary mitochondrial disorders.

[Biology of sideroblastic anemia].

Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Raab SO, Haut A, Cartwright GE, Wintrobe MM. Pyridoxine-responsive anemia. Blood. 1961;18(3):285-302.

[Genetic diagnosis of a Chinese pedigree with X-Linked sideroblastic anemia: a case report and literature review].

Delta-aminolevulinate synthase 2 polymorphism is associated with maximal oxygen uptake after Living-high exercise-high training-low in a male Chinese population.

A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia.

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Murine erythroid 5-aminolevulinate synthase: Adenosyl-binding site Lys221 modulates substrate binding and catalysis.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.

[Update on the biology of heme synthesis in erythroid cells].