Cargando…

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are el...

Descripción completa

Detalles Bibliográficos
Autores principales:	Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2013
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698306/ https://www.ncbi.nlm.nih.gov/pubmed/23826564 http://dx.doi.org/10.3343/alm.2013.33.4.274

Ejemplares similares

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry
por: Legnini, Elisa, et al.
Publicado: (2012)

Lyso-globotriaosylsphingosine induces endothelial dysfunction via autophagy-dependent regulation of necroptosis
por: Hwang, Ae-Rang, et al.
Publicado: (2023)

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
por: Boutin, Michel, et al.
Publicado: (2023)

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb(3)) in Fabry Transgenic Mice and in the Plasma of Fabry Patients
por: Young-Gqamana, Brandy, et al.
Publicado: (2013)

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)
por: Perrone, Alessandro, et al.
Publicado: (2021)

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
por: Van Baelen, Amber, et al.
Publicado: (2023)

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
por: Dinur, Tama, et al.
Publicado: (2022)

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
por: Cozma, Claudia, et al.
Publicado: (2020)

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)
por: Liu, Hao-Chuan, et al.
Publicado: (2014)

A review of treatment of Pompe disease in infants
por: Chien, Yin-Hsiu, et al.
Publicado: (2007)

Development of Newborn Screening for Pompe Disease
por: Hwu, Wuh-Liang, et al.
Publicado: (2020)

Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease
por: Jang, Heejoon, et al.
Publicado: (2019)

Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
por: Chien, Yin-Hsiu, et al.
Publicado: (2022)

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease
por: Ouyang, Yan, et al.
Publicado: (2018)

A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome
por: Lee, Ni-Chung, et al.
Publicado: (2017)

Epithelial–Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide
por: Jeon, Yeo Jin, et al.
Publicado: (2015)

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
por: Tsukimura, Takahiro, et al.
Publicado: (2014)

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?
por: Tsukimura, Takahiro, et al.
Publicado: (2021)

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease
por: Taguchi, Atsumi, et al.
Publicado: (2023)

Newborn Dried Blood Spots for Serologic Surveys of COVID-19
por: Liu, Feimei, et al.
Publicado: (2020)

Lyso-glycosphingolipids: presence and consequences
por: van Eijk, Marco, et al.
Publicado: (2020)

Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease
por: Namdar, Mehdi, et al.
Publicado: (2012)

Analysis of the Stability of Urea in Dried Blood Spots Collected and Stored on Filter Paper
por: Quraishi, Rizwana, et al.
Publicado: (2013)

Performance of Dried Blood Spot Samples in SARS-CoV-2 Serolomics
por: Jeske, Rima, et al.
Publicado: (2022)

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy
por: Franzen, Daniel, et al.
Publicado: (2018)

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
por: Chinen, Yasutsugu, et al.
Publicado: (2017)

LYSO based precision timing calorimeters
por: Bornheim, A, et al.
Publicado: (2017)

Craft techniques in conductive education to support the employment of persons with mobility impairments
por: Mascher, Robert
Publicado: (2022)

Curated incidence of lysosomal storage diseases from the Taiwan Biobank
por: Tsai, Meng-Ju Melody, et al.
Publicado: (2023)

Barley Seed Aging: Genetics behind the Dry Elevated Pressure of Oxygen Aging and Moist Controlled Deterioration
por: Nagel, Manuela, et al.
Publicado: (2016)

Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
por: Chien, Yin-Hsiu, et al.
Publicado: (2013)

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
por: Chiang, Shu-Chuan, et al.
Publicado: (2020)

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
por: Chen, Szu‐Ju, et al.
Publicado: (2019)

Moderately High Tenofovir Diphosphate in Dried Blood Spots Indicates Drug Resistance in Viremic Persons Living with HIV
por: Yager, Jenna Lynn, et al.
Publicado: (2019)

Antigen-induced generation of lyso-phospholipids in human airways
Publicado: (1996)

Recognition of Lyso-Phospholipids by Human Natural Killer T Lymphocytes
por: Fox, Lisa M., et al.
Publicado: (2009)

Depth of interaction resolution of LuAP and LYSO crystals
por: Trummer, J, et al.
Publicado: (2009)

Determination of the Absolute Light Yields of LuYAP and LYSO
por: Kronberger, Matthias, et al.
Publicado: (2009)

Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
por: Chen, Chase, et al.
Publicado: (2022)

The effect of dietary lipid quality in early life on serum LysoPC(18:2) levels and their association with adult blood glucose levels in intrauterine growth restricted rats
por: Kodde, Andrea, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_266c6orfs7s9j8l5m4co8fs736