The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. (Q37915025)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

review article

1 reference

title

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Wuh-liang Hwu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1

Arnold J Reuser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

2

Frans W Verheijen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

3

Deeksha Bali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Otto P van Diggelen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Zoltan Lukacs

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Adolf Mühl

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Petra Olivova

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Monique Piraud

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Birgit Wuyts

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Kate Zhang

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Joan Keutzer

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

publication date

23 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

10 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

page(s)

144-148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21831684%20AND%20SRC:MED&resulttype=core&format=json

Lysosomal storage disorders in the newborn

10 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Studies on phenylketonuria. IX. Further observations on the effect of phenylalanine-restricted diet on patients with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Dried-blood spot screening for cystic fibrosis in the newborn

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Screening for congenital hypothyroidism in the newborn

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Design and synthesis of substrate and internal standard conjugates for profiling enzyme activity in the Sanfilippo syndrome by affinity chromatography/electrospray ionization mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Prevalence of lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Fabry disease: results of the first UK hemodialysis screening study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Diagnosis of Fabry disease via analysis of family history

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Towards quality assurance in the determination of lysosomal enzymes: a two-centre study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.014