Sacha Ferdinandusse

Netherlands

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Articles (11)

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2022

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2020

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2020

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2020

Collaborators (8)

Hidde Huidekoper

Erasmus University Rotterdam

NETHERLANDS

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Vincent Portero

Assistant Professor

Leiden University Medical Center

NETHERLANDS

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Arlene V. Drack

UNITED STATES

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Imen DORBOZ

FRANCE

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Geneviève Bernard

McGill University

CANADA

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Richard Chang

Associate Professor

University of California Irvine School of Medicine

UNITED STATES

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Teresa J Stradomska

Children's Memorial Health Institute

POLAND

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Seok-Yong Choi

Professor

Chonnam National University Medical School

SOUTH KOREA

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Sacha Ferdinandusse

Research Interests

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Articles (11)

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates

Genome sequencing in persistently unsolved white matter disorders

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment

Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation

Collaborators (8)

Hidde Huidekoper

Vincent Portero

Arlene V. Drack

Imen DORBOZ

Geneviève Bernard

Richard Chang

Teresa J Stradomska

Seok-Yong Choi

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