Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.

Welford, Richard W D; Farine, Herve; Steiner, Michel; Garzotti, Marco; Dobrenis, Kostantin; Sievers, Claudia; Strasser, Daniel S; Amraoui, Yasmina; Groenen, Peter M A; Giugliani, Roberto; Mengel, Eugen

Welford, Richard W D; Farine, Herve; Steiner, Michel; Garzotti, Marco; Dobrenis, Kostantin; Sievers, Claudia; Strasser, Daniel S; Amraoui, Yasmina; Groenen, Peter M A; Giugliani, Roberto; Mengel, Eugen.

Affiliation

Welford RWD; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Farine H; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Steiner M; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Garzotti M; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Dobrenis K; Albert Einstein College of Medicine, Dominick P. Purpura Dept of Neuroscience, 1410 Pelham Parkway South, Rose F Kennedy Center 616, Bronx, NY 10461, USA.
Sievers C; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Strasser DS; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Amraoui Y; SphinCS, Clinical Science for LSD, Geheimrat-Hummel-Platz 2, 65239 Hochheim, Germany.
Groenen PMA; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland.
Giugliani R; Department of Genetics, UFRGS, Medical Genetics Service and Biodiscovery Laboratory, HCPA, Porto Alegre, Brazil.
Mengel E; SphinCS, Clinical Science for LSD, Geheimrat-Hummel-Platz 2, 65239 Hochheim, Germany.

Mol Genet Metab Rep ; 30: 100843, 2022 Mar.

Article de En | MEDLINE | ID: mdl-35242574

Mots clés

Biomarker; CLN2, neuronal ceroid lipofuscinosis type 2; CNS, central nervous system; CSF, cerebrospinal fluid; EDTA, Ethylenediaminetetraacetic acid; GBA2, non-lysosomal glucocerebrosidase; GCS, glucosylceramide synthase; GD3, Gaucher disease type 3; GFAP, Glial fibrillary acidic protein; Gangliosidosis; GlcSph, glucosylsphingosine; LC-MS/MS, liquid chromatography coupled with tandem mass spectrometry; LLOQ, lower limit of quantification; LSD, lysosomal storage disorders; Lysosome; Lysosphingolipid; MRI, magnetic resonance imaging; MS, multiple sclerosis; NF-L, Neurofilament light chain; NPC, Niemann Pick disease type C; Neurofilament; QC, quality control; lysoGb3, globotriaosylsphingosine

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Mol Genet Metab Rep Année: 2022 Type de document: Article Pays d'affiliation: Suisse Pays de publication: États-Unis d'Amérique

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