未登录

C

Christiane Auray-Blais

University of Sherbrooke

H指数:38

被引数:4,067

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-010

PRE

Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis

IF3.3

2025-03-010

PRE

Fabry disease biomarker evaluation during a five-year gene therapy clinical trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Feasibility of newborn screening of triple H syndrome using dried urine spots analyzed by flow-injection mass spectrometry

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Lentiviral gene therapy for Fabry disease-5 Year end of study analysis for the FACTS trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial

通过 lentivirus 介导的基因疗法治疗法布里病：加拿大 FACTs 试验的 5 年研究结束结果

CLINICAL AND TRANSLATIONAL MEDICINE

IF6.8

2025-01-105

OAAI

Urine filter paper high-risk screening test for early detection of lysosphingolipidoses using tandem mass spectrometry

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Technological update of the Provincial Neonatal Urine Screening Program in Quebec

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Analysis by tandem mass spectrometry of lyso-Gb3 and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Tandem mass spectrometry analysis of dried urine spots for newborn screening of mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Can the use of urinary and plasma globotriaosylsphingosine and their analogues as diagnostic biomarkers be confirmed in male patients with Fabry disease?

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Vitamin B-12 Intake from Dairy but Not Meat Is Associated with Decreased Risk of Low Vitamin B-12 Status and Deficiency in Older Adults from Quebec, Canada

JOURNAL OF NUTRITION

IF3.8

2022-11-016

OAAI

Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry

IF3.3

2022-06-086

OAAI

Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1

JOURNAL OF PROTEOME RESEARCH

IF3.6

2022-03-295

PRE

Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Mass spectrometry analysis of the vitreous fluid from a Gaucher disease type 3 patient

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

X chromosome inactivation, α-galactosidase A activity and lyso-Gb3 in Danish heterozygous females with Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE