• 36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload
• A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation
• A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia
• A double red cells population in a woman with a microcytic anemia
• A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man
• A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia
• A Novel <em>ALAS2</em> Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia
• A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels
• A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia
• A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype
• A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia
• A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
• A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
• A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia
• Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
• Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience
• 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
• Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
• Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
• Biallelic mutations in the <em>SARS2</em> gene presenting as congenital sideroblastic anemia
• Biology of sideroblastic anemia
• Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation
• Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38
• Clinical features and gene mutation spectrum in children with sideroblastic anemia
• Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature
• Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38
• Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
• Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis
• Congenital sideroblastic anemia of a Saudi child
• Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review
• Cryo-EM structure of AMP-PNP-bound human mitochondrial ATP-binding cassette transporter ABCB7
• Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling
• Delta-aminolevulinate synthase 2 polymorphism is associated with maximal oxygen uptake after Living-high exercise-high training-low in a male Chinese population
• Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing
• Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote
• Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders
• Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone
• Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis
• Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
• Effect of 5-aminolevulinic acid on erythropoiesis: a preclinical in vitro characterization for the treatment of congenital sideroblastic anemia
• Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease
• Erythropoiesis-hepcidin-iron axis in patients with X-linked sideroblastic anaemia: An explorative biomarker study
• Establishment of a cell model of X-linked sideroblastic anemia using genome editing
• Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)₄ cluster exporter and the molecular mechanism of an E433K disease-causing mutation
• Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein
• Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation
• Genetic diagnosis of a Chinese pedigree with X-Linked sideroblastic anemia: a case report and literature review
• Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort
• GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia
• Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia
• Heme biosynthesis and the porphyrias
• Hemochromatosis
• Hemochromatosis
• Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis
• Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients
• Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia
• In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity
• Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation
• Iron Metabolism in the Disorders of Heme Biosynthesis
• Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients
• Lethal ALAS2 mutation in males X-linked sideroblastic anaemia
• Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia
• Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports
• Microcytic anemia in a pregnant woman: beyond iron deficiency
• Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants
• Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia
• Molecular pathophysiology of sideroblastic anemia
• Murine erythroid 5-aminolevulinate synthase: Adenosyl-binding site Lys221 modulates substrate binding and catalysis
• Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine
• Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
• Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing
• Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
• New mutation of congenital sideroblastic anemia: a case report and literature review
• Novel frameshift variant (c.409dupG) in <em>SLC25A38</em> is a common cause of congenital sideroblastic anaemia in the Indian subcontinent
• Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing
• Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia
• Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis
• Raab SO, Haut A, Cartwright GE, Wintrobe MM. Pyridoxine-responsive anemia. Blood. 1961;18(3):285-302
• Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G&gt;A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity
• Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias
• Renal manifestations of primary mitochondrial disorders
• Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias
• Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in <em>SPTB</em> and <em>ALAS2</em> Genes
• Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes
• Sideroblastic anemia: functional study of two novel missense mutations in ALAS2
• Structural basis for dysregulation of aminolevulinic acid synthase in human disease
• Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B(6)
• Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B₆
• The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
• The molecular genetics of sideroblastic anemia
• The phenotypic spectrum of germline <em>YARS2</em> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
• Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation
• Transfer RNA and syndromic sideroblastic anemia
• Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options
• Update on the biology of heme synthesis in erythroid cells
• When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms
• X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise
• X-linked sideroblastic anaemia in a female fetus: a case report and a literature review
• X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
• X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation