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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/04 18:38:35」(JST)
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- 1. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
English Journal
- A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.
- Kostadinov S1, Shah BA, Alroy J, Phornphutkul C.
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.Pediatr Dev Pathol.2014 Nov-Dec;17(6):474-7. doi: 10.2350/14-05-1500-CR.1. Epub 2014 Jul 30.
- Galactosialidosis (GS) is a rare autosomal recessive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase as a result of a genetic defect in the protective protein/cathepsin A gene. We report a case of unsuspected fetal galactosialidosis presentin
- PMID 25075748
- Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
- Prada CE1, Gonzaga-Jauregui C2, Tannenbaum R3, Penney S4, Lupski JR5, Hopkin RJ3, Sutton VR6.
- European journal of medical genetics.Eur J Med Genet.2014 Jul;57(7):339-44. doi: 10.1016/j.ejmg.2014.04.005. Epub 2014 Apr 24.
- Rare genetic disorders can go undiagnosed for years as the entire spectrum of phenotypic variation is not well characterized given the reduced number of patients reported in the literature and the low frequency at which these occur. Moreover, the current paradigm for clinical diagnostics defines dis
- PMID 24769197
Japanese Journal
- 臨床報告 眼底のcherry-red spotからガラクトシアリドーシスの診断に至った1例
- 北川 史子,丸山 百合香,山田 教弘 [他]
- 眼科 53(3), 359-363, 2011-03
- NAID 40018746796
- A case of galactosialidosis with a homozygous Q49R point mutation
- MATSUMOTO Naoko,GONDO Kenjiro,KUKITA Johji,HIGAKI Katsumi,PARAGISON Rubigilda C.,NANBA Eiji
- Brain & development 30(9), 595-598, 2008-10-01
- NAID 10025170220
Related Links
- Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of ...
- Galactosialidosis. 71 likes. When they do all the run through to make sure that it is safe and will work. ... I have enjoyed reading many statuses about some things about my friends Thanks Zackery Benfer for giving me number 13 1. I ...
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★リンクテーブル★
| リンク元 | 「β-ガラクトシダーゼ・ノイラミニダーゼ欠乏症」「ガラクトシアリドーシス」 |
「β-ガラクトシダーゼ・ノイラミニダーゼ欠乏症」
- 英
- β-galactosidase-neuraminidase deficiency, combind β-galactosidaseand neuraminidase deficiency
- 同
- ガラクトシアリドーシス galactosialidosis
- 関
- ガラクトシダーゼ ノイラミニダーゼ