Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening (Q36193022)

12 August 2017

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

1 reference

12 August 2017

Michael H Gelb

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12 August 2017

Yijun Li

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12 August 2017

C Ronald Scott

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12 August 2017

Nestor A Chamoles

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12 August 2017

Ahmad Ghavami

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12 August 2017

B Mario Pinto

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12 August 2017

Frantisek Turecek

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12 August 2017

language of work or name

English

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publication date

3 August 2004

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12 August 2017

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12 August 2017

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12 August 2017

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12 August 2017

1785-1796

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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

PubMed publication ID

15292070

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