(Q36193022)

12 August 2017

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

1 reference

12 August 2017

7

Michael H Gelb

1 reference

12 August 2017

Yijun Li

1

1 reference

12 August 2017

C Ronald Scott

2

1 reference

12 August 2017

Nestor A Chamoles

3

1 reference

12 August 2017

Ahmad Ghavami

4

1 reference

12 August 2017

B Mario Pinto

5

1 reference

12 August 2017

Frantisek Turecek

6

1 reference

12 August 2017

language of work or name

English

0 references

publication date

3 August 2004

1 reference

12 August 2017

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12 August 2017

50

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12 August 2017

1785-1796

1 reference

12 August 2017

10

1 reference

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Proteomic approaches to the diagnosis, treatment, and monitoring of cancer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

The use of MassARRAY technology for high throughput genotyping

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

New prospects for the treatment of lysosomal storage diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Groups IV, V, and X phospholipases A2s in human neutrophils: role in eicosanoid production and gram-negative bacterial phospholipid hydrolysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Use of filter paper for the collection and analysis of human whole blood specimens

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Synthesis of nitrogen analogues of salacinol and their evaluation as glycosidase inhibitors

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Tris discriminates between the different alpha-glucosidase activities from extracts of human neutrophils

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428798

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

22 September 2018

1 reference

12 December 2020

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

1 reference

12 December 2020

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease

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

Lysosomal Storage Diseases

1 reference

12 December 2020

White blood cells and the diagnosis of alpha-glucosidase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1373/CLINCHEM.2004.035907

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

1 reference