(Q45873825)

17 December 2017

title

Treatment strategies for lysosomal storage disorders (English)

1 reference

17 December 2017

author

Michael Beck

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Michael Beck

series ordinal

1

1 reference

17 December 2017

publication date

1 November 2017

1 reference

17 December 2017

Developmental Medicine and Child Neurology

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

13-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

Multidisciplinary management of Hunter syndrome.

6 June 2020

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21 January 2018

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

21 January 2018

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

21 January 2018

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Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

21 January 2018

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21 January 2018

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Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial

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Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy

21 January 2018

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Genome editing for inborn errors of metabolism: advancing towards the clinic.

21 January 2018

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Unexpected mutations after CRISPR–Cas9 editing in vivo

21 January 2018

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

21 January 2018

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Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

21 January 2018

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Long-term nonsense suppression therapy moderates MPS I-H disease progression.

21 January 2018

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Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases

21 January 2018

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Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

21 January 2018

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Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

21 January 2018

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Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases

21 January 2018

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Newborn screening for lysosomal storage diseases

21 January 2018

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Newborn Screening for Lysosomal Storage Disorders

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/DMCN.13600

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090451%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference