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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

Authors :
Sarah P. Young
Christine Vianey-Saban
Magali Pettazzoni
Pascal Laforêt
Brigitte Chabrol
Monique Piraud
Marie De Antonio
Roseline Froissart
Hospices Civils de Lyon (HCL)
Centre Hospitalier Universitaire de Lyon
Institut de biologie et chimie des protéines [Lyon] (IBCP)
Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN)
Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon)
Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
Centre de résonance magnétique biologique et médicale (CRMBM)
Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES)
Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS)
CHU Pitié-Salpêtrière [AP-HP]
Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
Hôpital de la Timone [CHU - APHM] (TIMONE)
Source :
Molec. Genet. Metab. Rep., Molec. Genet. Metab. Rep., 2020, 23, pp.100583. ⟨10.1016/j.ymgmr.2020.100583⟩, Molecular Genetics and Metabolism Reports, Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Publication Year :
2020
Publisher :
HAL CCSD, 2020.

Abstract

International audience

Subjects

Subjects :
Glc4, Glcα1-6Glcα1-4Glcα1-4Glc, tetraglucose
Cross Immune Reactive Material
[SDV]Life Sciences [q-bio]
Gastroenterology
Endocrinology
Limit of Detection
IOPD
Medicine
LOD
lcsh:QH301-705.5
ComputingMilieux_MISCELLANEOUS
QC
NaBH3CN, Sodium Cyanoborohydride
lcsh:R5-920
0303 health sciences
LOQ
GVUS
030305 genetics & heredity
Solid Phase Extraction
LOD, Limit of Detection
Enzyme replacement therapy
Glycogen Storage Disease
CRIM
3. Good health
LOPD
Cohort
Biomarker (medicine)
PD
ERT
IS, Internal Standard
LOPD, Late-Onset Pompe disease
lcsh:Medicine (General)
Urine glucose
NaBH3CN
Research Paper
Pompe Disease
Quality Control
medicine.medical_specialty
QC, Quality Control
Glcα1-6Glcα1-4Glcα1-4Glc
Late-Onset Pompe disease
GSD
Glc4
tetraglucose
03 medical and health sciences
ERT, Enzyme Replacement Therapy
Sodium Cyanoborohydride
Internal medicine
ACN, Acetonitrile
Genetics
IOPD, Infantile-Onset Pompe disease
Tetrasaccharide
del ex 18, c.2481+102_2646+31 del
Enzyme Replacement Therapy
Acetonitrile
GSD, Glycogen Storage Disease
Molecular Biology
BAB
030304 developmental biology
Infantile-Onset Pompe disease
business.industry
PD, Pompe Disease
BAB, Butyl-4-aminobenzoate
ACN
Internal Standard
Limit of Quantification
del ex 18
SPE, Solid Phase Extraction
lcsh:Biology (General)
IS
CRIM, Cross Immune Reactive Material
GVUS, Genetic Variant of Unknown Significance
Genetic Variant of Unknown Significance
SPE
business
LOQ, Limit of Quantification
Butyl-4-aminobenzoate
c.2481+102\₂646+31 del

Details

Language :
English
Database :
OpenAIRE
Journal :
Molec. Genet. Metab. Rep., Molec. Genet. Metab. Rep., 2020, 23, pp.100583. ⟨10.1016/j.ymgmr.2020.100583⟩, Molecular Genetics and Metabolism Reports, Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Accession number :
edsair.doi.dedup.....698d97b754414656fb5907757deff3c4

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Authors Abstract Subjects Details