| Organic solute transporter alpha deficiency: a disorder with cholestasis, liver fibrosis, and congenital diarrhea E Gao, H Cheema, N Waheed, I Mushtaq, N Erden, C Nelson‐Williams, ... Hepatology 71 (5), 1879-1882, 2020 | 40 | 2020 |
| Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders LR Soria, S Gurung, G De Sabbata, DP Perocheau, A De Angelis, ... EMBO Molecular Medicine 13 (2), e13158, 2021 | 22 | 2021 |
| Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis V Kožich, BC Schwahn, J Sokolová, M Křížková, T Ditroi, J Krijt, Y Khalil, ... Redox Biology 58, 102517, 2022 | 19 | 2022 |
| Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry E Yutuc, AL Dickson, M Pacciarini, L Griffiths, PRS Baker, L Connell, ... Analytica Chimica Acta 1154, 338259, 2021 | 19 | 2021 |
| mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria S Gurung, OV Timmermand, D Perocheau, AL Gil-Martinez, M Minnion, ... Science translational medicine 16 (729), eadh1334, 2024 | 10 | 2024 |
| Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism N Keller, N Mendoza-Ferreira, R Maroofian, V Chelban, Y Khalil, PB Mills, ... Neuromuscular Disorders 30 (7), 583-589, 2020 | 10 | 2020 |
| mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria S Gurung, OV Timmermand, D Perocheau, AL Gil-Martinez, M Minnion, ... BioRxiv, 2022.10. 19.512931, 2022 | 7 | 2022 |
| Tissue proteome of 2-hydroxyacyl-CoA lyase deficient mice reveals peroxisome proliferation and activation of ω-oxidation Y Khalil, S Carrino, F Lin, A Ferlin, HV Lad, F Mazzacuva, S Falcone, ... International Journal of Molecular Sciences 23 (2), 987, 2022 | 7 | 2022 |
| Urea cycle related amino acids measured in dried bloodspots enable long-term in vivo monitoring and therapeutic adjustment J Baruteau, Y Khalil, S Grunewald, M Zancolli, A Chakrapani, M Cleary, ... Metabolites 9 (11), 275, 2019 | 4 | 2019 |
| Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis RS Kiss, J Chicoine, Y Khalil, R Sladek, H Chen, A Pisaturo, C Martin, ... Journal of Biological Chemistry 299 (11), 2023 | 3 | 2023 |
| Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency Y Khalil, E Footitt, R Vootukuri, MF Wempe, CR Coughlin, S Batzios, ... Journal of Inherited Metabolic Disease, 2024 | 2 | 2024 |
| Comparative proximity biotinylation implicates RAB18 in sterol mobilization and biosynthesis RS Kiss, J Chicoine, Y Khalil, R Sladek, H Chen, A Pisaturo, C Martin, ... bioRxiv, 871517, 2019 | 2 | 2019 |
| α-Aminoadipic Semialdehyde and 6-Oxo-pipecolic Acid Y Khalil, PT Clayton, PB Mills Laboratory Guide to the Methods in Biochemical Genetics, 423-430, 2024 | | 2024 |
| Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature A Selamioğlu, MC Balcı, M Karaca, Y Khalil, R Hirachan, H Durmuş Tekçe, ... JIMD reports 65 (5), 305-312, 2024 | | 2024 |
| OC39 Diagnosis and monitoring treatment for inborn errors of bile acid synthesis: moving towards dried blood spot analyses Y Khalil, R Hirachan, F Mazzacuva, H Prunty, P Mills, P Clayton Frontline Gastroenterology 15 (Suppl 1), A30-A30, 2024 | | 2024 |
| Elevated Bile Acid 3β, 5α, 6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C N Motamed-Gorji, Y Khalil, C Gonzalez-Robles, S Khan, P Mills, ... Antioxidants 13 (5), 561, 2024 | | 2024 |
| In vivo lentiviral gene therapy restores ureagenesis in the urea cycle defect argininosuccinic aciduria L Touramanidou, DP Perocheau, OV Timmermand, S Gurung, Y Khalil, ... HUMAN GENE THERAPY 33 (23-24), A10-A10, 2022 | | 2022 |
| In Vivo mRNA Therapy for Argininosuccinic Aciduria S Gurung, D Perocheau, L Touramanidou, Y Khalil, P Mills, ... MOLECULAR THERAPY 30 (4), 125-125, 2022 | | 2022 |
| A treatable hereditary polyneuropathy due to impaired Vitamin B6 metabolism PN Torbati, EG Karimiani, NM Ferreira, R Maroofian, V Chelban, Y Khalil, ... Eur. J. Hum. Genet. 28 (SUPPL 1), 439-441, 2020 | | 2020 |
Julien BaruteauPrincipal Research Fellow, University College London在 ucl.ac.uk 的电子邮件经过验证
