Youssef Khalil

Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: December 21, 2025

Case report: The first report of a family with sitosterolemia in the Polish population.

Case report: The first report of a family with sitosterolemia in the Polish population.

Journal: Journal of clinical lipidology

Published: December 15, 2025

Safety and efficacy analysis of in vivo lentiviral gene therapy in pre-clinical ARC syndrome models.

Safety and efficacy analysis of in vivo lentiviral gene therapy in pre-clinical ARC syndrome models.

Journal: Nature communications

Published: May 15, 2025

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Journal: Molecular genetics and metabolism

Published: January 29, 2025

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Journal: Journal of inherited metabolic disease

Published: March 20, 2024

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Journal: Antioxidants (Basel, Switzerland)

Published: January 11, 2024

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

Journal: Science translational medicine

Published: January 10, 2024

Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases.

Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases.

Journal: The Journal of investigative dermatology

Published: June 27, 2023

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Journal: The Journal of biological chemistry

Published: March 16, 2023

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Journal: Redox biology

Published: September 30, 2022

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.

Journal: International journal of molecular sciences

Published: December 16, 2021

Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.

Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.

Journal: Analytica chimica acta

Published: December 22, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026