(Q83116248)

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19 January 2020

title

Newborn screening for lysosomal storage disorders (English)

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19 January 2020

1

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19 January 2020

Doug A Brooks

10

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19 January 2020

11

John J Hopwood

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19 January 2020

author name string

Dallas J Grasby

2

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19 January 2020

Caroline J Dean

3

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19 January 2020

Debbie L Lang

4

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19 January 2020

Michelle Bockmann

5

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19 January 2020

Alison M Whittle

6

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19 January 2020

Michael J Fietz

7

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19 January 2020

Henrik Simonsen

8

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19 January 2020

Maria Fuller

9

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19 January 2020

publication date

4 April 2006

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Molecular Genetics and Metabolism

19 January 2020

published in

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19 January 2020

volume

88

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19 January 2020

issue

4

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19 January 2020

page(s)

307-314

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Prevalence of lysosomal storage disorders

19 January 2020

cites work

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Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation

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Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

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Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

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Wolman disease successfully treated by bone marrow transplantation.

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

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Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

7 January 2021

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Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease

7 January 2021

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

7 January 2021

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Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

7 January 2021

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

7 January 2021

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

7 January 2021

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Gene therapy for lysosomal storage disorders

7 January 2021

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Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders

7 January 2021

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Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease

7 January 2021

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Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

7 January 2021

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Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

7 January 2021

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alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

7 January 2021

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Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I

7 January 2021

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Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

7 January 2021

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Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

7 January 2021

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Protein processing: a role in the pathophysiology of genetic disease.

7 January 2021

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.

7 January 2021

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Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease

7 January 2021

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Prediction of neuropathology in mucopolysaccharidosis I patients.

7 January 2021

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Immunoquantification of beta-glucosidase: diagnosis and prediction of severity in Gaucher disease

7 January 2021

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Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

7 January 2021

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Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

7 January 2021

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Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

7 January 2021

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Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

7 January 2021

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Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns

7 January 2021

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Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

7 January 2021

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Newborn screening for Duchenne muscular dystrophy: a psychosocial study

7 January 2021

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7 January 2021

Identifiers

DOI

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19 January 2020

1 reference