Plasma G

Adult Humans Gangliosides / metabolism G(M2) Ganglioside / metabolism Gangliosidoses, GM2 / diagnosis Tay-Sachs Disease / diagnosis Hexosaminidase A Biomarkers Sandhoff Disease / diagnosis beta-N-Acetylhexosaminidases / metabolism
AB variant GM2 activator protein GM2-Gangliosidosis Hexosaminidases Mass spectrometry Plasma gangliosides

Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
02 2023
Historique:
received: 22 09 2022
revised: 08 12 2022
accepted: 21 12 2022
pubmed: 30 1 2023
medline: 15 2 2023
entrez: 29 1 2023
Statut: ppublish

Résumé

GM2-Gangliosidosis are a group of inherited lysosomal storage pathologies characterized by a large accumulation of G

Identifiants

DOI: 10.1016/j.ymgme.2022.106983 PMID: 36709536
pubmed: 36709536
pii: S1096-7192(22)00461-9
doi: 10.1016/j.ymgme.2022.106983
pii:
doi:

Substances chimiques

Gangliosides 0
G(M2) Ganglioside 19600-01-2
Hexosaminidase A EC 3.2.1.52
Biomarkers 0
beta-N-Acetylhexosaminidases EC 3.2.1.52

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

106983

Informations de copyright

Copyright © 2022 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest A competing interest statement: Authors have no conflict of interest.

Auteurs

Amélie Blondel (A)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.

Ichraf Kraoua (I)

University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Neurology Department, LR18SP04, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.

Chloé Marcelino (C)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.

Walid Khrouf (W)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.

Dimitri Schlemmer (D)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.

Benjamin Ganne (B)

Cytogenetic and Medical Genetic Department, Hôpital de la mère et de l'enfant, 87042 Limoges, France.

Catherine Caillaud (C)

Biochemistry, Metabolomics, and Proteomics Department, Necker Enfants Malades University Hospital, AP-HP, Center-Paris University, 75015 Paris, France.

Gorka Fernández-Eulate (G)

Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, 75013 Paris, France; Institut Necker-Enfants Malades, INSERM U1151, BioSPC (ED562), Université Paris Cité, Paris, France.

Ilhem Ben Youssef Turki (IBY)

University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Neurology Department, LR18SP04, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.

Benjamin Dauriat (B)

Cytogenetic and Medical Genetic Department, Hôpital de la mère et de l'enfant, 87042 Limoges, France.

Dominique Bonnefont-Rousselot (D)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France; Paris University, UTCBS, U 1022 Inserm, UMR 88 CNRS, Paris, France.

Yann Nadjar (Y)

Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, 75013 Paris, France.

Foudil Lamari (F)

Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France. Electronic address: foudil.lamari@aphp.fr.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Plasma G
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Plasma G
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Glycosphingolipides › Glycosphingolipides acides › Gangliosides › Plasma G
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Glycosphingolipides › Glycosphingolipides acides › Gangliosides › Ganglioside GM2 › Plasma G
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Gangliosidoses › Gangliosidoses à GM2 › Plasma G
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Gangliosidoses › Gangliosidoses à GM2 › Maladie de Tay-Sachs › Plasma G
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Hexosaminidases › beta-N-Acetylhexosaminidases › Hexosaminidase A › Plasma G
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Plasma G
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Gangliosidoses › Gangliosidoses à GM2 › Maladie de Sandhoff › Plasma G
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Hexosaminidases › beta-N-Acetylhexosaminidases › Plasma G