(Q38046227)

27 August 2017

title

Treatment options for lysosomal storage disorders: developing insights (English)

1 reference

27 August 2017

Carin M van Gelder

1

1 reference

27 August 2017

Audrey A M Vollebregt

2

1 reference

27 August 2017

Iris Plug

3

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27 August 2017

Ans T van der Ploeg

4

1 reference

27 August 2017

Arnold J J Reuser

5

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27 August 2017

language of work or name

English

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publication date

26 September 2012

1 reference

Expert Opinion on Pharmacotherapy

27 August 2017

published in

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27 August 2017

volume

13

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27 August 2017

issue

16

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27 August 2017

page(s)

2281-2299

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Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

At the acidic edge: emerging functions for lysosomal membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Lysosomes: fusion and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Sorting of lysosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Molecular and cellular basis of lysosomal transmembrane protein dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

A mutation in SCARB2 is a modifier in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The frequency of lysosomal storage diseases in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The cell biology of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Lysosomal disorders: from storage to cellular damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Immune system irregularities in lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Velaglucerase alfa for the management of type 1 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

A randomized study of alglucosidase alfa in late-onset Pompe's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Reengineering biopharmaceuticals for targeted delivery across the blood-brain barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Lysosomal storage diseases: natural history and ethical and economic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Hematopoietic bone marrow cells participate in endothelial, but not epithelial or mesenchymal cell renewal in adult rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The clinical outcome of Hurler syndrome after stem cell transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Newborn screening for Krabbe disease: the New York State model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

A new human somatic stem cell from placental cord blood with intrinsic pluripotent differentiation potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Neural stem cell transplantation as a therapeutic approach for treating lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Targeting gene-modified hematopoietic cells to the central nervous system: use of green fluorescent protein uncovers microglial engraftment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Gene therapy for lysosomal storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Gene therapy for lysosomal storage diseases (LSDs) in large animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Gene therapy progress and prospects: gene therapy of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Lysosomal enzyme replacement of the brain with intravenous non-viral gene transfer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Pharmacological chaperone therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Fibroblast screening for chaperone therapy in beta-galactosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Structure-activity relationship of novel menaquinone-4 analogues: modification of the side chain affects their biological activities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Cysteamine therapy: a treatment for cystinosis, not a cure

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Stop-codon read-through for patients affected by a lysosomal storage disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Progress and prospects: targeted gene alteration (TGA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

Newborn screening for lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.2012.729039

10.1517/14656566.2012.729039

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference