Newborn screening for lysosomal storage disorders (Q37839905)

24 August 2017

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title

Newborn screening for lysosomal storage disorders. (English)

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24 August 2017

Kimitoshi Nakamura

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24 August 2017

Kiyoko Hattori

series ordinal

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24 August 2017

Fumio Endo

series ordinal

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24 August 2017

publication date

10 February 2011

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

24 August 2017

published in

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24 August 2017

volume

157C

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24 August 2017

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24 August 2017

page(s)

63-71

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Human beta-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells

24 August 2017

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21 January 2018

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Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

21 January 2018

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21 January 2018

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Effective gene therapy in an authentic model of Tay-Sachs-related diseases

21 January 2018

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

21 January 2018

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Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

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Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy

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A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).

21 January 2018

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

21 January 2018

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

21 January 2018

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Pathology and Current Treatment of Neurodegenerative Sphingolipidoses

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

21 January 2018

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Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology

21 January 2018

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Variations among cell lines in the synthesis of sphingolipids in de novo and recycling pathways

21 January 2018

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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

21 January 2018

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21 January 2018

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21 January 2018

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Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

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Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

21 January 2018

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

21 January 2018

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The status of hematopoietic stem cell transplantation in lysosomal storage disease

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

21 January 2018

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Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain

21 January 2018

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High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

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Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells

21 January 2018

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Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

21 January 2018

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21 January 2018

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21 January 2018

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A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

21 January 2018

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Gaucher disease: Perspectives on a prototype lysosomal disease

21 January 2018

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Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30291

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release_tg2q5qq3z5esxocy7t527znnsy

24 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/tg2q5qq3z5esxocy7t527znnsy

mapped directly with Wikidata item

24 November 2022

based on heuristic

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