(Q37763610)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

review article

1 reference

title

Newborn screening for neuropathic lysosomal storage disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Yin-Hsiu Chien

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Ni-Chung Lee

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2

Yin-Hsiu Chien

1 reference

22 August 2017

Ni-Chung Lee

3

1 reference

22 August 2017

publication date

8 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

381-386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-010-9130-6

5 February 2020

exact match

0 references

cites work

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9130-6

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

21 January 2018

1 reference

12 December 2020

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

1 reference

12 December 2020

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I

1 reference

12 December 2020

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

12 December 2020

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

1 reference

12 December 2020

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).

1 reference

12 December 2020

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

1 reference

12 December 2020

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

1 reference

12 December 2020

Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia

1 reference

12 December 2020

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

1 reference

12 December 2020

Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York"

1 reference

12 December 2020

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

1 reference

12 December 2020

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

1 reference

12 December 2020

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

1 reference

12 December 2020

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

1 reference

12 December 2020

Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation

1 reference

12 December 2020

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

1 reference

12 December 2020

Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients

1 reference

12 December 2020

Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group

1 reference

12 December 2020

Clinical benefit of enzyme replacement therapy in Fabry disease

1 reference

12 December 2020

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.

1 reference

12 December 2020

Preliminary report on a mass screening program for neonatal hypothyroidism

1 reference

12 December 2020

Newborn screening for lysosomal storage disorders

1 reference

12 December 2020

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

1 reference

12 December 2020

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

12 December 2020

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: an update

1 reference

12 December 2020

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

1 reference

12 December 2020

Early onset of lysosomal storage disease in a murine model of mucopolysaccharidosis type VII: undegraded substrate accumulates in many tissues in the fetus and very young MPS VII mouse

1 reference

12 December 2020

The influence of newborn screening for cystic fibrosis on pulmonary outcomes in new South Wales

1 reference

12 December 2020

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

1 reference

12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

1 reference

12 December 2020

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

1 reference

12 December 2020

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1 reference

12 December 2020

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations

1 reference

12 December 2020

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

1 reference

12 December 2020

Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration

1 reference

12 December 2020

1 reference

12 December 2020

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

1 reference

12 December 2020

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Barrier mechanisms in the brain, II. Immature brain

1 reference

12 December 2020

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

1 reference

12 December 2020

Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

1 reference

12 December 2020

Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid

1 reference

12 December 2020

Substrate reduction therapy

1 reference

12 December 2020

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

12 December 2020

Enzyme replacement for lysosomal diseases

1 reference

12 December 2020

Newborn screening fact sheets

1 reference

12 December 2020

10.1007/S10545-010-9130-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532820%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference