(Q34203077)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Karen B Müller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Mayra Db Rodrigues

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Vanessa G Pereira

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ana M Martins

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

29 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

Treating lysosomal storage disorders: current practice and future prospects

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

Prevalence of lysosomal storage disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955652

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

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card

1 reference

12 December 2020

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1746-1596-5-65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20920262%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

20920262

1 reference