about
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunctionThe crucial impact of lysosomes in aging and longevityUtilization of Glycosaminoglycans/Proteoglycans as Carriers for Targeted Therapy DeliveryLysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literatureGlycosylation of therapeutic proteins: an effective strategy to optimize efficacyAssessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic diseaseExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.New strategies for enzyme replacement therapy for lysosomal storage diseasesNeuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIBFast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.Perinatal gene transfer to the liver.Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.Evaluation of transduction properties of an adenovirus vector in neonatal mice.The cell biology of lysosomal storage disorders.Spectrum of paediatric lysosomal storage disorders in oman.Storage solutions: treating lysosomal disorders of the brain.Quality of life of brazilian patients with Gaucher disease and fabry diseaseGlycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII miceMethods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.Substrate reduction therapy.Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.Lysosomal storage disorders in the newborn.Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerAnterior segment OCT imaging in mucopolysaccharidoses type I, II, and VI.Clinical neurogenetics: neuropathic lysosomal storage disorders.Lysosomal storage disorders: molecular basis and laboratory testing.Invertebrate models of lysosomal storage disease: what have we learned so far?Sphingolipid lysosomal storage disorders.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease.Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.A second reported malignancy in a patient with Morquio syndrome.Mannose 6-phosphorylated proteins are required for tumor necrosis factor-induced apoptosis: defective response in I-cell disease fibroblasts.Up-regulation of cation-independent mannose 6-phosphate receptor and endosomal-lysosomal markers in surviving neurons after 192-IgG-saporin administrations into the adult rat brainIncreased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice.The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Lysosomal disorders.
@ast
Lysosomal disorders.
@en
Lysosomal disorders.
@nl
type
label
Lysosomal disorders.
@ast
Lysosomal disorders.
@en
Lysosomal disorders.
@nl
prefLabel
Lysosomal disorders.
@ast
Lysosomal disorders.
@en
Lysosomal disorders.
@nl
P356
P1476
Lysosomal disorders.
@en
P2093
P356
10.1053/SINY.2001.0088
P577
2002-02-01T00:00:00Z