• <em>YARS2</em> Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality
• 5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia
• A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay
• A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
• ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria
• 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
• Autosomal inheritance of sideroblastic anaemia
• Beta-thalassemia
• Case report: Muscle involvement in a Chinese patient with <em>TRNT1</em>-related disorder
• Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review
• Chromosomal DNA cytophotometry in 20q- nonspecific myeloid disorders
• Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
• Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38
• Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience
• Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
• Congenital sideroblastic anemia of a Saudi child
• Congenital sideroblastic anemia: a report of two cases
• Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants
• Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing
• Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33
• Genetic disorders affecting proteins of iron metabolism: clinical implications
• Genetics of hereditary iron overload
• Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia
• Hematological manifestations of primary mitochondrial disorders
• Hemochromatosis
• Hemochromatosis
• Hereditary myopathies associated with hematological abnormalities
• Hereditary ring sideroblastic anaemia and Christmas disease in a Swedish family
• Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family
• Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance
• Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
• Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
• Mitochondrial iron metabolism and sideroblastic anemia
• Mitochondrial myopathy and sideroblastic anemia
• Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
• Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene
• Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
• Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
• Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome
• New form of autosomal-recessive axonal hereditary sensory motor neuropathy
• New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine
• Novel frameshift variant (c.409dupG) in <em>SLC25A38</em> is a common cause of congenital sideroblastic anaemia in the Indian subcontinent
• Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent
• Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy
• Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
• Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis
• Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations
• Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
• The molecular basis of the sideroblastic anemias
• Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation
• Trichothiodystrophy with sideroblastic anaemia and developmental delay
• Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene
• Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options
• Variant congenital dyserythropoietic anaemia with ringed sideroblasts
• When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms