乳児シアル酸蓄積病 ISSD
WordNet
- an impairment of health or a condition of abnormal functioning
- street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
- any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
- having the characteristics of an acid; "an acid reaction"
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- of or relating to infants or infancy; "infantile paralysis"
- being or befitting or characteristic of an infant; "infantile games"
- 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
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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English Journal
- A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
- Chung YK1, Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK.
- Glycoconjugate journal.Glycoconj J.2014 May;31(4):309-15. doi: 10.1007/s10719-014-9523-0. Epub 2014 Apr 30.
- Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs). For enzyme replacement therapy (ERT) of Hunter syndrome, two recombinant en
- PMID 24781369
- Extraction and immobilization of SA-α-2,6-Gal receptors on magnetic nanoparticles to study receptor stability and interaction with Sambucus nigra lectin.
- Gregorio-Jauregui KM1, Carrizalez-Alvarez SA, Rivera-Salinas JE, Saade H, Martinez JL, López RG, Segura EP, Ilyina A.
- Applied biochemistry and biotechnology.Appl Biochem Biotechnol.2014 Apr;172(8):3721-35. doi: 10.1007/s12010-014-0801-x. Epub 2014 Feb 25.
- The interaction between influenza virus hemagglutinins and host cell with terminal sialic acid linked receptors, SA-α-2,6-Gal for human strains is important to obtain insights into this infectious disease. Sambucus nigra lectin has high affinity for SA-α-2,6-Gal receptors. The goals of this work w
- PMID 24566927
- GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.
- Muthupalani S1, Torres PA2, Wang BC2, Zeng BJ2, Eaton S3, Erdelyi I1, Ducore R1, Maganti R1, Keating J1, Perry BJ1, Tseng FS4, Waliszewski N4, Pokras M4, Causey R5, Seger R5, March P6, Tidwell A6, Pfannl R7, Seyfried T3, Kolodny EH8, Alroy J9.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Apr;111(4):513-21. doi: 10.1016/j.ymgme.2014.02.002. Epub 2014 Feb 13.
- G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have identified seven American black bears (Ursus americanus) found in the Northeast United States suffering from G(M1)-gangliosidosis. This re
- PMID 24581871
Japanese Journal
- Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder
- Ishiwari Kouhei,Kotani Masaharu,Suzuki Minoru [他],Pumbo E,Suzuki A,Kobayashi T,Ueno T,Fukushige T,Kanzaki T,Imada M,Itoh K,Akioka S,Tajima Y,Sakuraba H
- Journal of human genetics 49(12), 656-663, 2004-12-01
- NAID 10014226137
- Infantile sialic acid storage disease (ISSD) : Report of the first case detected in Poland
- TYLKI-SZYMANSKA ANNA,CZARTORYSKA BARBARA,LUGOWSKA AGNIESZKA,VERHEIJEN FRANS W,MANCINI GRAZIA M S,ROKICKI DARIUSZ,TAYBERT JOANNA,CHMIELINSKA ELZBIETA
- Pediatrics international : official journal of the Japan Pediatric Society 45(2), 199-200, 2003-04-01
- NAID 10011917227
- A Japanese case of infantile sialic acid storage disease
- NAKANO Chizuko,HIRABAYASHI Yoshio,OHNO Kousaku,YANO Tamami,MITO Takashi,SAKURAI Minoru
- Brain & development 18(2), 153-156, 1996-03
- NAID 10005960241
Related Links
- Clinical Synopsis TEXT A number sign (#) is used with this entry because of evidence that infantile sialic acid storage disease (ISSD) is caused by homozygous or compound heterozygous mutation in the SLC17A5 gene (604322) on chromosome 6q13.
- infantile sialic acid storage disease A rare lysosomal storage disease (OMIM:269920) characterised by accumulation of sialic acid in tissue and free sialic acid that is excreted in the urine. Clinical findings Severe developmental delay ...
★リンクテーブル★
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乳児シアル酸蓄積病 infantile sialic acid storage disease
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- 英
- infantile sialic acid storage disease, ISSD
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- 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
- disease ≠ illness ≠ disorder
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- 関
- baby、infant、newborn infant、puerility、suckling、sucklings
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- 関
- pool、pooling、preservation、preserve、reserve、store
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シアル酸
- 関
- N-acetylneuraminic acid