(Q37839905)

24 August 2017

1 reference

title

Newborn screening for lysosomal storage disorders. (English)

1 reference

24 August 2017

Kimitoshi Nakamura

1

1 reference

24 August 2017

Kiyoko Hattori

series ordinal

2

1 reference

24 August 2017

Fumio Endo

series ordinal

3

1 reference

24 August 2017

10 February 2011

1 reference

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

24 August 2017

1 reference

24 August 2017

157C

1 reference

24 August 2017

1

1 reference

24 August 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

A CASE OF “ANGEIO-KERATOMA.”

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Trends in haematopoietic cell transplantation for inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Enzyme replacement for lysosomal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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/10.1002%2FAJMG.C.30291

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Pathology and current treatment of neurodegenerative sphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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/10.1002%2FAJMG.C.30291

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/10.1002%2FAJMG.C.30291

Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

The cell biology of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Enzyme-replacement therapy in mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Pompe disease diagnosis and management guideline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Mannose phosphorylation in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

The status of hematopoietic stem cell transplantation in lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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/10.1002%2FAJMG.C.30291

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Gene therapy for lysosomal storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Krabbe disease: genetic aspects and progress toward therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

Gaucher disease: Perspectives on a prototype lysosomal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30291

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30291

1 reference

release_tg2q5qq3z5esxocy7t527znnsy

24 August 2017

1 reference

Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference