Distinguished in Pol 3-Related Leukodystrophy

Stefanie Perrier

Montreal, QC, CA 

Distinguished in Pol 3-Related Leukodystrophy
Montreal, QC, CA 
OverviewLocationsClinical Research

Overview

Stefanie Perrier practices in Montreal, Canada. Ms. Perrier is rated as a Distinguished expert by MediFind in the treatment of Pol 3-Related Leukodystrophy. Her top areas of expertise are Leukodystrophy, Pol 3-Related Leukodystrophy, CACH Syndrome, and Hypogonadotropic Hypogonadism.

Her clinical research consists of co-authoring 15 peer reviewed articles. MediFind looks at clinical research from the past 15 years. In particular, she has co-authored 4 articles in the study of Pol 3-Related Leukodystrophy.

Gender
Female

Locations

Montreal, QC H4A3J1, Canada
Other Locations
Montreal, Canada
Toronto, ON, Canada

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Experts who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


15 Total Publications

Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Journal: HGG advances
Published: April 18, 2025
View All 15 Publications

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

Learn more about MediFind’s expert tiers

Find Ms. Perrier's expertise for a condition
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    • Distinguished
    • Leukodystrophy
      Ms. Perrier is
      Distinguished
      . Learn about Leukodystrophy.
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    • Pol 3-Related Leukodystrophy
      Ms. Perrier is
      Distinguished
      . Learn about Pol 3-Related Leukodystrophy.
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    • Advanced
    • CACH Syndrome
      Ms. Perrier is
      Advanced
      . Learn about CACH Syndrome.
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    • Hypogonadotropic Hypogonadism
      Ms. Perrier is
      Advanced
      . Learn about Hypogonadotropic Hypogonadism.
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    • Primary Carnitine Deficiency
      Ms. Perrier is
      Advanced
      . Learn about Primary Carnitine Deficiency.
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    • Experienced
    • Acromicric Dysplasia
      Ms. Perrier is
      Experienced
      . Learn about Acromicric Dysplasia.
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    • Delayed Growth
      Ms. Perrier is
      Experienced
      . Learn about Delayed Growth.
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    • Dysarthria
      Ms. Perrier is
      Experienced
      . Learn about Dysarthria.
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    • Folate Deficiency
      Ms. Perrier is
      Experienced
      . Learn about Folate Deficiency.
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    • Hallervorden-Spatz Disease
      Ms. Perrier is
      Experienced
      . Learn about Hallervorden-Spatz Disease.
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    • Hypogonadism
      Ms. Perrier is
      Experienced
      . Learn about Hypogonadism.
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    View All 12 Experienced Conditions
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