Bassen-Kornzweig disease

バッセン・コーンツヴァイク病、バッセン・コーンツヴァイク症候群

WordNet

1. an impairment of health or a condition of abnormal functioning
2. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 病気にかかった / 病的な,不健全な(morbid)

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 神経有棘赤血球症 neuroacanthocytosis
• 2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 3. アルコール性脂肪性肝炎およびアルコール性肝硬変の臨床症状および診断 clinical manifestations and diagnosis of alcoholic fatty liver disease and alcoholic cirrhosis
• 4. 慢性骨髄性白血病に対するチロシンキナーゼ阻害剤の臨床使用 clinical use of tyrosine kinase inhibitors for chronic myeloid leukemia
• 5. 成人における非アルコール性脂肪性肝疾患（NAFLD）の疫学、臨床的特徴、および診断 epidemiology clinical features and diagnosis of nonalcoholic fatty liver disease in adults

English Journal

• Novel mutations of SAR1B gene in four children with chylomicron retention disease.

• Simone ML, Rabacchi C, Kuloglu Z, Kansu A, Ensari A, Demir AM, Hizal G, Di Leo E, Bertolini S, Calandra S, Tarugi P.
• Journal of clinical lipidology. 2019 May;().
• Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). We in
• PMID 31253576

• Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.

• Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N.
• Atherosclerosis. 2019 May;284()75-82.
• Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins. Here we characterize a new ABL case with usual clinical phenotype, hypocholesterolemia, hypotriglyceridemia
• PMID 30875496

• Two infants with abetalipoproteinemia: Classic versus atypical presentation.

• Prachasitthisak N, Tanpowpong P, Tim-Aroon T, Treepongkaruna S, Chongviriyaphan N, Vithayasai N, Iamopas O, Wattanasirichaigoon D.
• Pediatrics international : official journal of the Japan Pediatric Society. 2019 May;61(5)508-509.
• PMID 31087595

Related Links

• Bassen-Kornzweig syndrome: MedlinePlus Medical Encyclopedia

Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines. ... Bassen-Kornzweig syndrome is caused by a defect in a gene that ...

• Bassen-Kornzweig syndrome | Hereditary Ocular Diseases

The major ocular manifestations of abetalipoproteinemia are in the retina which develops diffuse and sometimes patchy pigmentary changes often called atypical ... This autosomal recessive disease seems to result from an inability ...

---

★リンクテーブル★

リンク元	「無βリポ蛋白血症」
関連記事	「disease」

「無βリポ蛋白血症」

　　[★]

英

abetalipoproteinemia

同

家族性低密度リポ蛋白質欠損症 familial low-density lipoprotein deficiency、バッセン・コーンツヴァイク症候群 Bassen-Kornzweig syndrome、バッセン・コーンツヴァイク病, Bassen-Kornzweig disease, Bassen-Kornzweig病、Bassen-Kornzweig症候群、無βリポタンパク質血症

[show details]

無βリポ蛋白血症 : 約 11,000 件
無βリポタンパク血症 : 73 件
無βリポ蛋白質血症 : 14 件
無βリポタンパク質血症 : 47 件

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder