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1. ヘキソースリン酸側路およびグルタチオン代謝疾患（グルコース-6-リン酸脱水素酵素欠損症を除く） disorders of the hexose monophosphate shunt and glutathione metabolism other than glucose 6 phosphate dehydrogenase deficiency
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. 光線角化症の治療 treatment of actinic keratosis
4. 基底細胞癌の治療および予後 treatment and prognosis of basal cell carcinoma
5. 尿素サイクル障害：管理 urea cycle disorders management

English Journal

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria.

Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ.SourceDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Mount Sinai Medical Center, New York, New York, United States of America.
Molecular medicine (Cambridge, Mass.).Mol Med.2013 Mar 5;19(1):18-25. doi: 10.2119/molmed.2013.00003.
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1670ΔAT (ΔAT) and c.1706_1709ΔAGTG (ΔAGTG), that prematu
PMID 23348515

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, Manabe A, Ito E, Ozawa K, Kojima S, Ogawa S, Harigae H.SourceDepartment of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.
Annals of hematology.Ann Hematol.2013 Jan;92(1):1-9. doi: 10.1007/s00277-012-1564-5. Epub 2012 Sep 16.
Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to clarify the pathophysiology of sideroblastic anemia, a n
PMID 22983749

リンク元	「5-アミノレブリン酸合成酵素」「5-アミノレブリン酸シンテターゼ」
関連記事	「synthetase」「aminolevulinate」