familial defective ApoB-100

同

FDB

WordNet

1. markedly subnormal in structure or function or intelligence or behavior; "defective speech"
2. having a defect; "I returned the appliance because it was defective" (同)faulty
3. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
4. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible

PrepTutorEJDIC

1. 『欠点のある』,欠陥のある / 欠けている,足りない,(知能的に)標準以下の / 精神障害者,身体障害者
2. 家族の,家族特有の / 違伝的な,血統にあらわれる

UpToDate Contents

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• 1. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
• 2. 副腎不全の稀な原因 unusual causes of adrenal insufficiency
• 3. Familial acute leukemia and myelodysplastic syndromes
• 4. 家族性腺腫性ポリポーシスの臨床症状および診断 clinical manifestations and diagnosis of familial adenomatous polyposis
• 5. HDL代謝およびHDLコレステロール値異常の患者に対するアプローチ hdl metabolism and approach to the patient with abnormal hdl cholesterol levels

English Journal

• Genetic analysis of familial hypercholesterolaemia in Western Australia.

• Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, Watts GF, van Bockxmeer FM.SourceCardiovascular Genetics Laboratory, Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.
• Atherosclerosis.Atherosclerosis.2012 Oct;224(2):430-4. doi: 10.1016/j.atherosclerosis.2012.07.030. Epub 2012 Jul 27.
• OBJECTIVE: To determine the spectrum of mutations associated with familial hypercholesterolaemia (FH) and their detection rate in the FH Western Australia (FHWA) Program.METHODS: Mutation testing of the LDLR gene, plus select regions in APOB and PCSK9, was performed in the first 343 patients conside
• PMID 22883975

• Lack of cardiovascular disease among old order amish with familial defective apolipoprotein B.

• Ahmad Z, Garg A.
• Archives of internal medicine.Arch Intern Med.2011 Jun 13;171(11):1039-40; author reply 1040. doi: 10.1001/archinternmed.2011.238.
• PMID 21670376

• Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated.

• Leren TP, Berge KE.SourceMedical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.
• PloS one.PLoS One.2011 Feb 18;6(2):e16721. doi: 10.1371/journal.pone.0016721.
• OBJECTIVES: To study whether subjects with a molecular genetic diagnosis of familial hypercholesterolemia (FH) or familial defective apoB-100 (FDB) are being adequately treated.DESIGN: A questionnaire regarding medical history was sent to 2611 subjects who had been provided with a molecular genetic
• PMID 21364743

Related Links

• Apolipoprotein B deficiency - Wikipedia, the free encyclopedia

Apolipoprotein B deficiency (also known as "Familial defective apolipoprotein B- 100") is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor ( LDL ...

• Familial defective apolipoprotein B-100 - The Journal of Lipid ...

mutation in the human apoB-100 gene that also causes hypercholesterolemia. This genetic disorder has been designated familial defective apoB-100 (FDB). Apolipo- protein B-100 is the exclusive protein constituent of LDL and is the ligand ...

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★リンクテーブル★

リンク元	「FDB」
関連記事	「defective」「familial」

「FDB」

　　[★]

同

familial defective ApoB-100

「defective」

　　[★]

• adj.

• 欠損した、不完全な、欠く、欠陥のある

関

absent、agenesis、defect、deficiency、deficient、deficit、deletion、deletional、devoid、drawback、fault、faulty、flaw、imperfect、imperfection、imperfectly、incomplete、incompletely、lack、miss、missing、vicious

　 　 　

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred