WordNet

of or relating to megaloblasts
abnormally large red blood cell present in pernicious anemia and folic acid deficiency

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1. ビタミンB12および葉酸欠乏症の診断および治療 diagnosis and treatment of vitamin b12 and folate deficiency
2. 大赤血球症 macrocytosis
3. ビタミンB12および葉酸欠乏症の病因および臨床症状 etiology and clinical manifestations of vitamin b12 and folate deficiency
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

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL.SourceInserm U954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, Medical Faculty of Nancy University and University Hospital Centre, Nancy, France.
Human molecular genetics.Hum Mol Genet.2013 Nov 15;22(22):4591-601. doi: 10.1093/hmg/ddt308. Epub 2013 Jul 3.
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease conversion of hydroxocobalamin (HOCbl) to methylcobalamin, while in cblC, mutations in MMACHC disrupt formation of cob(II)alamin (de
PMID 23825108

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH.SourceDivision of Hematology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
American journal of human genetics.Am J Hum Genet.2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10.
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in z
PMID 24119684

High Prevalence of Cerebral Venous Sinus Thrombosis (CVST) as Presentation of Cystathionine Beta-Synthase Deficiency in Childhood: Molecular and Clinical Findings of Turkish Probands.

Karaca M, Hismi B, Ozgul RK, Karaca S, Yilmaz DY, Coskun T, Sivri HS, Tokatli A, Dursun A.SourceAksaray University, Faculty of Science and Arts, Department of Biology, Aksaray, Turkey.
Gene.Gene.2013 Nov 6. pii: S0378-1119(13)01485-6. doi: 10.1016/j.gene.2013.10.060. [Epub ahead of print]
Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients.
PMID 24211323

足立清太郎,中原一有,奥瀬千晃,大石嘉恭,重福隆太,高木麗,路川陽介,野元雅仁,片倉芳樹,伊東文生
日本消化器内視鏡学会雑誌 = Gastroenterological endoscopy 54(1), 50-56, 2012-01-20
症例は69歳，女性．胃全摘後巨赤芽球性貧血で通院中に総胆管結石を指摘され入院となった．Roux-en-Y法（R-Y法）再建のため有効長200cmのダブルバルーン内視鏡（DBE）にてERCPを行った．乳頭到達は可能であったが，腸管の短縮が困難で汎用スコープへの入れ替えが困難であったため，DBE単独でのERCPを試みた．胆管挿管に難渋したが，カニューレとして先端加工した6Frテーパードカテーテルで挿管 …
NAID 10030293554

A simple flow cytometric scoring system is useful for distinguishing myelodysplastic syndromes from non-clonal anemic disorders

Ogawa Daisuke,Tsushima Hideki,Hata Tomoko,Iwanaga Masako,Tomonaga Masao
Acta Medica Nagasakiensia 56(3), 85-92, 2012-01-00
… The flow cytometric score was significantly higher in MDS patients than in those with other anemic disorders, the exception being megaloblastic anemia (i.e., Vitamin B12 deficiency, folate deficiency). …
NAID 110008767602