長鎖3-ヒドロキシアシルCoA脱水素酵素欠損症
WordNet
- primarily temporal sense; being or indicating a relatively great or greater than average duration or passage of time or a duration as specified; "a long life"; "a long boring speech"; "a long time"; "a long friendship"; "a long game"; "long ago"; "an hour long"
- (of speech sounds or syllables) of relatively long duration; "the English vowel sounds in `bate, `beat, `bite, `boat, `boot are long"
- for an extended distance
- for an extended time or at a distant time; "a promotion long overdue"; "something long hoped for"; "his name has long been forgotten"; "talked all night long"; "how long will you be gone?"; "arrived long before he was expected"; "it is long after your bedtime"
- having or being more than normal or necessary:"long on brains"; "in long supply"
- holding securities or commodities in expectation of a rise in prices; "is long on coffee"; "a long position in gold"
- involving substantial risk; "long odds"
- of relatively great height; "a race of long gaunt men"- Sherwood Anderson; "looked out the long French windows"
- primarily spatial sense; of relatively great or greater than average spatial extension or extension as specified; "a long road"; "a long distance"; "contained many long words"; "ten miles long"
- fasten or secure with chains; "Chain the chairs together"
- a unit of length
- a necklace made by a stringing objects together; "a string of beads"; "a strand of pearls"; (同)string, strand
- a linked or connected series of objects; "a chain of daisies"
- a series of (usually metal) rings or links fitted into one another to make a flexible ligament
- anything that acts as a restraint
- (chemistry) a series of linked atoms (generally in an organic molecule) (同)chemical chain
- a series of things depending on each other as if linked together; "the chain of command"; "a complicated concatenation of circumstances" (同)concatenation
- (business) a number of similar establishments (stores or restaurants or banks or hotels or theaters) under one ownership
- connect or arrange into a chain by linking
- the 3rd letter of the Roman alphabet (同)c
- (music) the keynote of the scale of C major
- a general-purpose programing language closely associated with the UNIX operating system
- prolonged unfulfilled desire or need (同)yearning, hungriness
PrepTutorEJDIC
- (距離・物の長さが)『長い』 / (時間が)『長い』,長く続く / 《時間・距離などを表離などを表す語を伴って》長さが…の / 『長々しい』,あきあきする / (数量が標準よりも)『多い』,長い / (人が)やせてひょろ長い / 長く,長い間,久しく / …じゅう / ずっと(前に,後に) / 長い間
- 『熱望する』
- 『鎖』;(装飾用の)鎖 / 《複数形で》『束縛』,拘束;囚人をつなぐ鎖 / (物事の)『連続』,つながり《+『of』+『名』》 / (商店・銀行・ホテルなどの)チェーン(一連の店が同一資本のもとで連携して経営される方式;その店) / チェーン(測量で用いられる単位;約21.7m) / …'を'『鎖でつなぐ』《+『up』(『together』)+『名,』+『名』+『up』(『together』)》
- 〈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
- carbonの化学記号
- 『あこがれ』,熱望 / (目の表情などが)あこがれの,熱望している
UpToDate Contents
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English Journal
- Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
- Boese EA1, Jain N2, Jia Y1, Schlechter CL1, Harding CO3, Gao SS1, Patel RC1, Huang D1, Weleber RG1, Gillingham MB3, Pennesi ME4.
- Ophthalmology.Ophthalmology.2016 Oct;123(10):2183-95. doi: 10.1016/j.ophtha.2016.06.048. Epub 2016 Aug 2.
- PURPOSE: To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders.DESIGN: Retrospective case series.PARTICIPANTS: Consecutive patients with MTP disorders evaluated at a single center from 1994 through 2015, including 1
- PMID 27491397
- Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function.
- Kivelä TT1.
- Acta paediatrica (Oslo, Norway : 1992).Acta Paediatr.2016 Sep 17. doi: 10.1111/apa.13595. [Epub ahead of print]
- What is special about long-chain fatty acids and the retina Nobody knows exactly, but these two do not always mix well, as a failure to oxidise this particular class of fatty acids properly is the only mitochondrial β-oxidation defect that leads to chorioretinopathy (1). Its most common cause is a
- PMID 27639177
- Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
- Fahnehjelm KT1,2,3, Liu Y4,5, Olsson D6,7, Amrén U8,9, Haglind CB6,7, Holmström G10, Halldin M11, Andreasson S12, Nordenström A6,7.
- Acta paediatrica (Oslo, Norway : 1992).Acta Paediatr.2016 Jul 27. doi: 10.1111/apa.13536. [Epub ahead of print]
- AIM: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic control and clinical symptoms.METHODS: We examined 12 Swedish
- PMID 27461099
Japanese Journal
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : clinical presentation and follow-up of 50 patients
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation
Related Links
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of ...
- 1. Baskin, B., Geraghty, M., Ray, P. N. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am. J. Med. Genet. 152A: 1808-1811, 2010. [PubMed: 20583174, related citations ...
★リンクテーブル★
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- 英
- long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD
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- 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
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- 関
- open-chain、strand
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長い、望む
- 関
- desire、hope、lengthy、wish
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