WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
a deficiency of red blood cells (同)anaemia
a lack of vitality (同)anaemia
genus of terrestrial or lithophytic ferns having pinnatifid fronds; chiefly of tropical America (同)genus Anemia
an erythroblast having granules of ferritin

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1. 鉄芽球性貧血の臨床的側面、診断、および治療 clinical aspects diagnosis and treatment of the sideroblastic anemias
2. 先天性および後天性鉄芽球性貧血の原因 causes of congenital and acquired sideroblastic anemias
3. 鉄芽球性貧血の病態生理 pathophysiology of the sideroblastic anemias
4. 銅欠乏性脊髄神経障害 copper deficiency myeloneuropathy
5. 骨髄異形成症候群の臨床症状および診断 clinical manifestations and diagnosis of the myelodysplastic syndromes

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H.SourceBiochemistry and Molecular Genetics Unit, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain.
Blood.Blood.2011 Aug 11;118(6):1443-51. Epub 2011 Jun 7.
Mutations in the uroporphyrinogen III synthase (UROS) gene cause congenital erythropoietic porphyria (CEP), an autosomal-recessive inborn error of erythroid heme biosynthesis. Clinical features of CEP include dermatologic and hematologic abnormalities of variable severity. The discovery of a new typ
PMID 21653323