(Q47228432)

12 January 2018

title

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature (English)

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12 January 2018

author name string

M Voorink-Moret

1

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12 January 2018

S M I Goorden

2

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12 January 2018

A B P van Kuilenburg

3

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12 January 2018

F A Wijburg

4

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12 January 2018

J M M Ghauharali-van der Vlugt

5

1 reference

12 January 2018

F S Beers-Stet

6

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12 January 2018

A Zoetekouw

7

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12 January 2018

W Kulik

8

1 reference

12 January 2018

C E M Hollak

9

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12 January 2018

F M Vaz

10

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12 January 2018

publication date

22 December 2017

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12 January 2018

Molecular Genetics and Metabolism

published in

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12 January 2018

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

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Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

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Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

7 January 2021

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Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease

7 January 2021

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Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

7 January 2021

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LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

7 January 2021

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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

7 January 2021

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Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

7 January 2021

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

7 January 2021

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Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.

7 January 2021

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Quantification of oxysterols in human plasma and red blood cells by liquid chromatography high-resolution tandem mass spectrometry.

7 January 2021

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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

7 January 2021

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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

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Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

7 January 2021

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Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

7 January 2021

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Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

7 January 2021

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Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

7 January 2021

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Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

7 January 2021

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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

7 January 2021

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Plasma and metabolic abnormalities in Gaucher's disease.

7 January 2021

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A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

7 January 2021

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Monitoring of Gaucher patients with a novel chitotriosidase assay

7 January 2021

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Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

7 January 2021

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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

7 January 2021

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Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India

7 January 2021

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Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

7 January 2021

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Plasma chitotriosidase activity in children with lysosomal storage disorders

7 January 2021

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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

7 January 2021

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Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

7 January 2021

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Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

7 January 2021

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Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease

7 January 2021

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Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards.

7 January 2021

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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

7 January 2021

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Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease.

7 January 2021

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Glucosylsphingosine is a key biomarker of Gaucher disease

7 January 2021

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Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

7 January 2021

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Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard

7 January 2021

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Clinical, biochemical and molecular characterization of prosaposin deficiency.

7 January 2021

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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

7 January 2021

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A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

7 January 2021

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Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

Association of chitotriosidase enzyme activity and genotype with the risk of nephropathy in type 2 diabetes.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.12.431

10.1016/J.YMGME.2017.12.431

7 January 2021

Identifiers

DOI

1 reference

12 January 2018

PubMed ID

29290526

1 reference

12 January 2018