Sacha Ferdinandusse

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 137 publications

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease

Published: February 10, 2026

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Journal: Journal of inherited metabolic disease

Published: July 15, 2025

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Journal: Journal of inherited metabolic disease

Published: October 28, 2024

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Journal: Molecular genetics and metabolism

Published: May 29, 2024

Disorders of fatty acid homeostasis.

Disorders of fatty acid homeostasis.

Journal: Journal of inherited metabolic disease

Published: November 15, 2023

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: October 03, 2023

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

Journal: European journal of medical genetics

Published: May 29, 2023

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Journal: Molecular genetics & genomic medicine

Published: February 27, 2023

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Journal: Journal of medical genetics

Published: February 26, 2023

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

Journal: The Journal of allergy and clinical immunology

Published: February 01, 2023

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

Journal: Journal of inherited metabolic disease

Published: August 30, 2022

Showing 1-12 of 137

Last Updated: 09/26/2026