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Page 1
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Raina R, Bedoyan JK, Lichter-Konecki U, Jouvet P, Picca S, Mew NA, Machado MC, Chakraborty R, Vemuganti M, Grewal MK, Bunchman T, Sethi SK, Krishnappa V, McCulloch M, Alhasan K, Bagga A, Basu RK, Schaefer F, Filler G, Warady BA. Raina R, et al. Among authors: bedoyan jk. Nat Rev Nephrol. 2020 Aug;16(8):471-482. doi: 10.1038/s41581-020-0267-8. Epub 2020 Apr 8. Nat Rev Nephrol. 2020. PMID: 32269302 Free PMC article. Review.
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Sen K, et al. Among authors: bedoyan jk. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. Mol Genet Genomic Med. 2024. PMID: 38634223 Free PMC article. Review.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Among authors: bedoyan jk. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants.
Pronman L, Rondinelli M, Burkardt DD, Velayuthan S, Khalili AS, Bedoyan JK. Pronman L, et al. Among authors: bedoyan jk. Clin Pediatr (Phila). 2019 Jun;58(7):819-824. doi: 10.1177/0009922819834285. Epub 2019 Mar 7. Clin Pediatr (Phila). 2019. PMID: 30845838 No abstract available.
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD). Posset R, et al. Sci Rep. 2020 Jul 20;10(1):11948. doi: 10.1038/s41598-020-67496-3. Sci Rep. 2020. PMID: 32686765 Free PMC article.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. Schillaci LA, et al. Among authors: bedoyan jk. Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1. Mol Genet Metab. 2016. PMID: 27397597
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Huang X, et al. Among authors: bedoyan jk. Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12. Mol Genet Metab. 2017. PMID: 27913098 Free PMC article.
49 results