List of works - Sacha Ferdinandusse

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

scientific article published on 01 August 2011

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

scientific article published on 12 July 2016

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

scientific article published on 03 July 2019

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency

scientific article published on December 2002

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

scientific article

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase

scientific article

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

scientific article published on 28 July 2015

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

scientific article published on 05 February 2020

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

scientific article published on 31 October 2016

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

scientific article published on 23 January 2020

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder

scientific article published in December 2015

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

scientific article

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

scientific article published in December 2017

Alpha-methylacyl-CoA racemase as an androgen-independent growth modifier in prostate cancer.

scientific article

Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer.

scientific article

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

scientific article published on 26 November 2020

Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects

scientific article

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

scholarly article

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

scientific article published on 10 March 2011

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution

scientific article published on 01 September 2018

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

scientific article published on 20 July 2017

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

scientific article published on 08 August 2018

Bile acid analysis in human disorders of bile acid biosynthesis

scientific article published on 17 March 2017

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

scientific article published on 01 April 2007

Bile acids: the role of peroxisomes

scientific article published on 08 April 2009

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

scientific article published on 17 June 2017

Cholic acid therapy in Zellweger spectrum disorders.

scientific article published on 28 July 2016

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

scientific article published on 18 April 2016

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

scientific article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

scientific article published on 18 June 2015

Clinical and biochemical spectrum of D-bifunctional protein deficiency

scientific article published in January 2006

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

scientific article

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

scientific article

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

scientific article

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

scientific article published on 29 July 2020

Conjugation is essential for the anticholestatic effect of NorUrsodeoxycholic acid in taurolithocholic acid-induced cholestasis in rat liver.

scientific article published on November 2010

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

scientific article published on 29 January 2020

Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors

scientific article published on 04 May 2007

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice

scientific article

Differential expression of hepatic genes involved in cholesterol homeostasis in high- and low-responding strains of laboratory opossums

scientific article published on May 2008

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

scientific article published on 01 March 2018

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

scientific article published on 18 June 2020

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

scientific article published on 28 October 2020

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

scientific article published on 14 August 2014

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates

scientific article published on 08 April 2020

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

scientific article

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

scientific article published on August 2003

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

scientific article published on 26 May 2016

Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer

scientific article published on 04 September 2020

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

scientific article published on 20 June 2018

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis

scientific article

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

scientific article published on 01 January 2020

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

scientific article

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

scientific article published on 28 August 2017

Galactose Epimerase Deficiency: Expanding the Phenotype.

scientific article published in March 2017

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

scientific article published on 16 December 2015

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

scientific article

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

Human disorders of peroxisome metabolism and biogenesis

scientific article

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders

scientific article

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

scientific article

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

scientific article

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.

scientific article

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

scientific article published in April 2004

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

scientific article published on 08 April 2019

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

scientific article published on 2 February 2017

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

scientific article

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

scientific article published on 24 June 2015

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

scientific article published on 18 October 2019

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report

scientific article published on 21 December 2015

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

scientific article

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

scientific article published on 22 September 2020

Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites

scientific article published on 30 August 2017

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

scientific article published on 26 March 2020

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

scientific article

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl‐CoA hydroxylase cDNA ⬇️

scientific article published on June 1, 1998

Monocarboxylate transporter 1 deficiency and ketone utilization

scientific article published in November 2014

Monocarboxylate transporter 1 deficiency and ketone utilization

scientific article published on 01 February 2015

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

scientific article

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

scientific article

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

scientific article

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

scientific article published on 01 November 2019

Neonatal carnitine concentrations in relation to gestational age and weight

scientific article published on 08 September 2020

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 18 January 2020

PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation

scientific article published on 13 July 2007

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

scientific article published on 27 June 2020

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

scientific article published on 19 February 2014

Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids

scientific article

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line

scientific article published on 24 December 2016

Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer

scientific article

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

scientific article published on January 2003

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans

scientific article published on 01 January 2018

Peroxisomes and bile acid biosynthesis.

scientific article published on 14 September 2006

Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites

scientific article published on December 2012

Phytanic acid metabolism in health and disease

scientific article published on 13 June 2011

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

scientific article

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

scientific article published on 19 February 2020

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

scientific article published on 17 July 2019

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

scientific article published on 24 August 2018

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

scientific article published on 30 August 2017

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 January 2019

Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses

scientific article published on 9 January 2013

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene ⬇️

scientific article (publication date: October 1997)

Regulation of peroxisomal genes by DHEA and vitamin D.

scientific article

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

scientific article

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding

scientific article published on 6 February 2017

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum

scientific article published on 25 March 2020

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

scientific article published on 22 November 2012

Studies on the metabolic fate of n-3 polyunsaturated fatty acids

scientific article published in August 2003

Subclinical effects of long-chain fatty acid ß-oxidation deficiency on the adult heart: a case-control magnetic resonance study

scientific article published on 28 May 2020

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

scientific article published on 15 May 2015

The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

scientific article published on 17 December 2019

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

scientific article published on 09 January 2020

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

scientific article published on 10 October 2015

The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy

scientific article published on 21 February 2019

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase

scientific article

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

scientific article published on 04 March 2016

Toxicity of peroxisomal C27-bile acid intermediates

scientific article

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

scientific article published on 05 February 2019

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Yunis-Varón syndrome caused by biallelic VAC14 mutations

scientific article published on 21 June 2017

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

scientific article published on 29 January 2012

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

scientific article

Zellweger spectrum disorders: clinical overview and management approach

scientific article

List of works by Sacha Ferdinandusse

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

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

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

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

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Alpha-methylacyl-CoA racemase as an androgen-independent growth modifier in prostate cancer.

Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer.

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

Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Bile acid analysis in human disorders of bile acid biosynthesis

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

Bile acids: the role of peroxisomes

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

Cholic acid therapy in Zellweger spectrum disorders.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Clinical and biochemical spectrum of D-bifunctional protein deficiency

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

Conjugation is essential for the anticholestatic effect of NorUrsodeoxycholic acid in taurolithocholic acid-induced cholestasis in rat liver.

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice

Differential expression of hepatic genes involved in cholesterol homeostasis in high- and low-responding strains of laboratory opossums

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

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

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

Galactose Epimerase Deficiency: Expanding the Phenotype.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Genome sequencing in persistently unsolved white matter disorders

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

Human disorders of peroxisome metabolism and biogenesis

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

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

Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites

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

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl‐CoA hydroxylase cDNA ⬇️

Monocarboxylate transporter 1 deficiency and ketone utilization

Monocarboxylate transporter 1 deficiency and ketone utilization