glucosylceramidase deficiency

グルコシルセラミダーゼ欠損症

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1. 〈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

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• 1. IgG サブクラス欠乏症 igg subclass deficiency
• 2. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 5. 補体系の遺伝性疾患 inherited disorders of the complement system

English Journal

• Haematological manifestations and complications of Gaucher disease.

• Hughes DA, Pastores GM.SourceaDepartment of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital and University College Medical School, London, UK bDepartments of Neurology and Pediatrics, Neurogenetics Unit, University School of Medicine, NYU at Rivergate, New York, USA.
• Current opinion in hematology.Curr Opin Hematol.2013 Jan;20(1):41-7. doi: 10.1097/MOH.0b013e32835a9148.
• PURPOSE OF REVIEW: Gaucher disease is a rare inherited disorder of sphingolipid metabolism resulting in the accumulation of glucocerebroside substrate in cells throughout the reticuloendothelial system and clinical manifestations including cytopenias, organomegaly and bone disease. The clinical pres
• PMID 23108221

• A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

• Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N.SourceSection on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
• European journal of human genetics : EJHG.Eur J Hum Genet.2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.
• Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant alle
• PMID 22713811

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★リンクテーブル★

リンク元	「グルコシルセラミダーゼ欠損症」
関連記事	「deficiency」「glucosylceramidase」

「グルコシルセラミダーゼ欠損症」

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英

glucosylceramidase deficiency

関

グルコシルセラミダーゼ欠損

「deficiency」

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• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「glucosylceramidase」

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グルコシルセラミダーゼ

関

glucocerebrosidase