Variable clinical presentation in lysosomal storage disorders.

Variable clinical presentation in lysosomal storage disorders.

Item
http://www.wikidata.org/entity/Q34471641
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type miceAltered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosisHuman-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.Lysosomal storage disorders: A review of the musculoskeletal features.Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses.Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders.Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome.Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
P2860

Variable clinical presentation in lysosomal storage disorders.

Item
http://www.wikidata.org/entity/Q34471641
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Variable clinical presentation in lysosomal storage disorders.
@ast
Variable clinical presentation in lysosomal storage disorders.
@en
Variable clinical presentation in lysosomal storage disorders.
@nl
type
label
Variable clinical presentation in lysosomal storage disorders.
@ast
Variable clinical presentation in lysosomal storage disorders.
@en
Variable clinical presentation in lysosomal storage disorders.
@nl
prefLabel
Variable clinical presentation in lysosomal storage disorders.
@ast
Variable clinical presentation in lysosomal storage disorders.
@en
Variable clinical presentation in lysosomal storage disorders.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P478
P577
P6179
P698
P356
P1433
P1476
Variable clinical presentation in lysosomal storage disorders.
@en
P2093
P2888
P304
P31
P356
P478
P577
P6179
P698