Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

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http://www.wikidata.org/entity/Q48428241
Imiglucerase in the treatment of Gaucher disease: a history and perspectiveUnderstanding the natural history of Gaucher diseaseGaucher disease plus.Gaucher disease: insights from a rare Mendelian disorder.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.Middle-ear involvement in type I Gaucher's disease - a unique case.Mitral valve prolapse and mitral insufficiency in two siblings with Gaucher's disease.Gaucher's disease type III C: Unusual cause of intracardiac calcification.Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease.D409H/D409H genotype in Gaucher-like disease.Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.Gaucher disease phenotypes outflanked?Gaucher disease with communicating hydrocephalus and cardiac involvement.Aortic calcification in Gaucher disease: a case report
P2860

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

Item
http://www.wikidata.org/entity/Q48428241
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@en
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@nl
type
label
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@en
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@nl
prefLabel
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@en
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Hydrocephalus, corneal opaciti ...... c population of storage cells.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1600-0404.1992.TB05109.X
P407
P433
P478
P577
P698
P921