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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
赤血球

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1. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症 other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency
2. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
3. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
4. 神経筋疾患の評価における筋酵素 muscle enzymes in the evaluation of neuromuscular diseases
5. マラリアの診断 diagnosis of malaria

English Journal

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Mamoune A1, Bahuau M2, Hamel Y1, Serre V3, Pelosi M1, Habarou F4, Nguyen Morel MA5, Boisson B6, Vergnaud S7, Viou MT8, Nonnenmacher L8, Piraud M9, Nusbaum P10, Vamecq J11, Romero N7, Ottolenghi C8, Casanova JL12, de Lonlay P1.
PLoS genetics.PLoS Genet.2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov.
PMID 25392908

Triosephosphate isomerase deficiency: new insights into an enigmatic disease.

Orosz F1, Oláh J, Ovádi J.
Biochimica et biophysica acta.Biochim Biophys Acta.2009 Dec;1792(12):1168-74. doi: 10.1016/j.bbadis.2009.09.012. Epub 2009 Sep 26.
PMID 19786097

Characterization of glycolytic enzyme interactions with murine erythrocyte membranes in wild-type and membrane protein knockout mice.

Campanella ME1, Chu H, Wandersee NJ, Peters LL, Mohandas N, Gilligan DM, Low PS.
Blood.Blood.2008 Nov 1;112(9):3900-6. doi: 10.1182/blood-2008-03-146159. Epub 2008 Aug 12.
PMID 18698006

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Patients with hereditary fructose intolerance have normal ...

8 Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Nat Acad Sci USA 1987;84 ...

Red cell aldolase deficiency in hereditary spherocytosis.

1. Br J Haematol. 1969 Jan-Feb;16(1):145-56. Red cell aldolase deficiency in hereditary spherocytosis. Chapman RG. PMID: 5795205 [PubMed - indexed for MEDLINE] MeSH Terms Adult Aged Child Child, Preschool Erythrocyte ...