infantile globoid cell leukodystrophy

小児グロボイド細胞白質ジストロフィー

関

globoid cell leukodystrophy、Krabbe disease、Krabbe's disease

WordNet

1. small room in which a monk or nun lives (同)cubicle
2. a device that delivers an electric current as the result of a chemical reaction (同)electric cell
3. a room where a prisoner is kept (同)jail cell, prison cell
4. (biology) the basic structural and functional unit of all organisms; they may exist as independent units of life (as in monads) or may form colonies or tissues as in higher plants and animals
5. any small compartment; "the cells of a honeycomb"
6. a small unit serving as part of or as the nucleus of a larger political movement (同)cadre
7. of or relating to infants or infancy; "infantile paralysis"
8. being or befitting or characteristic of an infant; "infantile games"

PrepTutorEJDIC

1. (刑務所の)『独房』;(修道院の)小さい独居室 / (ミツバチの)みつ房,巣穴 / 小さい部屋 / 『細胞』 / 電池 / 花粉室 / (共産党などの)細胞
2. 《名詞の前にのみ用いて》幼時の / 子供じみた;子供らしい

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. クラッベ病 krabbe disease
• 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. 消失性白質疾患（Vanishing white matter disease） vanishing white matter disease
• 4. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
• 5. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies

English Journal

• AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease).

• Bradbury AM1, Rafi MA2, Bagel JH1, Brisson BK1, Marshall MS3, Pesayco Salvador J4, Jiang X5, Swain GP1, Prociuk ML1, ODonnell PA1, Fitzgerald C1, Ory DS5, Bongarzone ER3,6, Shelton GD4, Wenger DA2, Vite CH1.
• Human gene therapy.Hum Gene Ther.2018 Mar 14. doi: 10.1089/hum.2017.151. [Epub ahead of print]
• PMID 29316812

• Enhancement of multiple cranial and spinal nerves in vanishing white matter: expanding the differential diagnosis.

• Eluvathingal Muttikkal TJ1, Montealegre DR2, Matsumoto JA3.
• Pediatric radiology.Pediatr Radiol.2018 Mar;48(3):437-442. doi: 10.1007/s00247-017-3997-4. Epub 2017 Oct 12.
• PMID 29022088

• Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies.

• van den Broek BTA1,2,3, Page K4, Paviglianiti A5, Hol J5, Allewelt H4, Volt F5, Michel G6, Diaz MA7, Bordon V8, O'Brien T9, Shaw PJ10, Kenzey C5, Al-Seraihy A11, van Hasselt PM3, Gennery AR12, Gluckman E5, Rocha V5, Ruggeri A5, Kurtzberg J13, Boelens JJ1,2,3.
• Blood advances.Blood Adv.2018 Jan 4;2(1):49-60. doi: 10.1182/bloodadvances.2017010645. eCollection 2018 Jan 9.
• PMID 29344584

Japanese Journal

• Evolving perspective of the pathogenesis of globoid cell leukodystrophy (Krabbe disease).

• Suzuki Kunihiko
• Ｐｒｏｃｅｅｄｉｎｇｓ　ｏｆ　ｔｈｅ　Ｊａｐａｎ　Ａｃａｄｅｍｙ．　Ｓｅｒ．　Ｂ：　Ｐｈｙｓｉｃａｌ　ａｎｄ　Ｂｉｏｌｏｇｉｃａｌ　Ｓｃｉｅｎｃｅｓ 79B(1), 1-8, 2003
• … Clinical, pathological and biochemical phenotype of globoid cell leukodystrophy (Krabbe disease) has several unique characteristics that are sometimes contrary to the conventional concept of genetic lysosomal disease. … It was demonstrated early that galactosylceramide has unusual capacity to elicit a globoid cell-like reaction when implanted into the brain. …
• NAID 130000093556

• Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies

• ZAFEIRIOU Dimitrios I.,ANASTASIOU Athanasia L.,MICHELAKAKI Eleni M.,AUGOUSTIDOU-SAVVOPOULOU Persa A.,KATZOS George S.,E.KONTOPOULOS Eleftherios
• Brain & development 19(7), 488-491, 1997-11
• NAID 10005962769

• Late onset globoid cell leukodystrophy (Krabbe disease). Clinical and genetic delineation of two forms and their relation to the early infantile form

• LOONEN MCB.
• Neuropediatrics 16, 137-142, 1985
• NAID 30041709904

Related Links

• The Natural History of Infantile Globoid Cell Leukodystrophy ...

Infantile globoid cell leukodystrophy (GLD, or Krabbe disease) is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (multinucleated cells), the ...

• infantile globoid cell : definition of infantile globoid cell and ...

Infantile Globoid Cell Leukodystrophy (n.) 1. (MeSH) An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as ...

---

★リンクテーブル★

リンク元	「globoid cell leukodystrophy」「小児グロボイド細胞白質ジストロフィー」
関連記事	「infantile」「cell」「leukodystrophy」

「globoid cell leukodystrophy」

　　[★] グロボイド細胞白質ジストロフィー、クラッベ病

関

infantile globoid cell leukodystrophy、Krabbe disease、Krabbe's disease

「小児グロボイド細胞白質ジストロフィー」

　　[★]

英

infantile globoid cell leukodystrophy

関

クラッベ病、グロボイド細胞白質ジストロフィー

「infantile」

　　[★]

• adj.

• 乳児性の、乳児の、小児性の、小児型の

関

baby、infant、newborn infant、puerility、suckling、sucklings

　 　 　

「cell」

　　[★] 細胞 　 　 　 　 　 　 　

「leukodystrophy」

　　[★] 白質ジストロフィー