Scheie syndrome

出典: meddic

シャイエ症候群

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/05/10 12:30:32」(JST)

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英文文献

  • Growth hormone treatment in a patient with Hurler-Scheie syndrome.
  • Rogers DG, Nasomyont N.
  • Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 Sep 20;27(9-10):957-60. doi: 10.1515/jpem-2013-0340.
  • Abstract A female patient with known Hurler-Scheie syndrome, who underwent hematopoietic cell transplantation, presented with growth retardation and delayed puberty. She started growth hormone (GH) treatment at age 12.33 years, resulting in significantly improved linear growth and predicted adult he
  • PMID 24825081
  • Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I.
  • Arn P1, Bruce IA2, Wraith JE3, Travers H4, Fallet S4.
  • The Annals of otology, rhinology, and laryngology.Ann Otol Rhinol Laryngol.2014 Sep 11. pii: 0003489414550154. [Epub ahead of print]
  • OBJECTIVE: Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagno
  • PMID 25214650
  • Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.
  • Mayer FQ1, Adorne MD, Bender EA, de Carvalho TG, Dilda AC, Beck RC, Guterres SS, Giugliani R, Matte U, Pohlmann AR.
  • Pharmaceutical research.Pharm Res.2014 Sep 11. [Epub ahead of print]
  • PURPOSE: Mucopolysaccharidosis I is a genetic disorder caused by alpha-L-iduronidase deficiency. Its primary treatment is enzyme replacement therapy (ERT), which has limitations such as a high cost and a need for repeated infusions over the patient's lifetime. Considering that nanotechnological appr
  • PMID 25208876

和文文献

  • Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
  • Structural study on mutant α-L-iduronidases : insight into mucopolysaccharidosis type I
  • ムコ多糖症I型に対する本邦初の酵素補充療法

関連リンク

Scheie syndrome is metabolism disease passed down through families in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). ...
607016 - SCHEIE SYNDROME - MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S;; MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;; MPS V, FORMERLY; MPS5, FORMERLY ... NOTE: OMIM is intended for use primarily ...

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★リンクテーブル★
リンク元ムコ多糖症IS型」「シャイエ症候群
拡張検索Hurler-Scheie syndrome
関連記事syndrome

ムコ多糖症IS型」

  [★]

mucopolysaccharidosis type IS, MPS IS
シャイエ症候群 Scheie syndrome
ムコ多糖症


シャイエ症候群」

  [★]

Scheie syndrome
ムコ多糖症IS型


Hurler-Scheie syndrome」

  [★] ハーラー・シャイエ症候群


syndrome」

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  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」




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