Pages that link to "Q37599783"
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The following pages link to Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency (Q37599783):
Displaying 50 items.
- sideroblastic anaemia P (Q2610084) (← links)
- Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia (Q22253368) (← links)
- Spliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesis (Q26752221) (← links)
- Erythroid heme biosynthesis and its disorders (Q27008081) (← links)
- Refractory anemia with ring sideroblasts and RARS with thrombocytosis (Q28083238) (← links)
- Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase (Q28534109) (← links)
- Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature (Q33417720) (← links)
- Abnormal haem biosynthesis in the chronic anaemia of rheumatoid arthritis (Q33566173) (← links)
- Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis (Q33673549) (← links)
- Linkage analysis of a large pedigree with hereditary sideroblastic anaemia (Q33676607) (← links)
- SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability (Q33807657) (← links)
- Mitochondrial disorders of the nuclear genome (Q33810406) (← links)
- A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia (Q34130246) (← links)
- Sideroblastic anaemias (Q34556996) (← links)
- X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation (Q35408822) (← links)
- Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. (Q35643294) (← links)
- 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) (← links)
- Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing (Q35814634) (← links)
- Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. (Q36068952) (← links)
- Expression of the Rhodobacter sphaeroides hemA and hemT genes, encoding two 5-aminolevulinic acid synthase isozymes. (Q36098340) (← links)
- X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2). (Q36217252) (← links)
- Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). (Q36508470) (← links)
- Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of (Q36821528) (← links)
- Sideroblastic anemia: functional study of two novel missense mutations in ALAS2 (Q36902972) (← links)
- Mammalian iron metabolism and its control by iron regulatory proteins (Q36910294) (← links)
- SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value (Q37027772) (← links)
- The power plant of the cell is also a smithy: the emerging role of mitochondria in cellular iron homeostasis (Q37249438) (← links)
- Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. (Q37350017) (← links)
- Hereditary sideroblastic anemia: pathophysiology and gene mutations (Q37789669) (← links)
- Zebrafish erythropoiesis and the utility of fish as models of anemia (Q38068985) (← links)
- Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview (Q38069579) (← links)
- Heme and erythropoieis: more than a structural role. (Q38216392) (← links)
- Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management (Q39131365) (← links)
- Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. (Q39279998) (← links)
- Molecular genetics of disorders of haem biosynthesis (Q39624267) (← links)
- 5-Aminolevulinate synthase and the first step of heme biosynthesis (Q40433927) (← links)
- Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia (Q40433933) (← links)
- Molecular Regulation of Heme Biosynthesis in Higher Vertebrates (Q40473960) (← links)
- Biphasic ordered induction of heme synthesis in differentiating murine erythroleukemia cells: role of erythroid 5-aminolevulinate synthase (Q40656715) (← links)
- Pathogenetic Aspects of Myelodysplastic Syndromes (Q41073900) (← links)
- Iron and copper in mitochondrial diseases (Q41260893) (← links)
- The biochemistry of heme synthesis in porphyria and in the porphyrinurias (Q41745490) (← links)
- Enzyme assays and the porphyrias: which tissues and when indicated (Q41745497) (← links)
- Trichothiodystrophy with sideroblastic anaemia and developmental delay (Q42113248) (← links)
- Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. (Q47074147) (← links)
- The orphan nuclear receptor TR4 regulates erythroid cell proliferation and maturation. (Q47669267) (← links)
- Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria (Q47851870) (← links)
- Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. (Q48302768) (← links)
- Microcytic anemia in a pregnant woman: beyond iron deficiency (Q50454373) (← links)
- Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. (Q51930222) (← links)