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Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
O'Reilly D, Crushell E, Hughes J, Ryan S, Rogers Y, Borovickova I, Mayne P, Riordan M, Awan A, Carson K, Hunter K, Lynch B, Shahwan A, Rüfenacht V, Häberle J, Treacy EP, Monavari AA, Knerr I. O'Reilly D, et al. Among authors: knerr i. J Inherit Metab Dis. 2021 May;44(3):639-655. doi: 10.1002/jimd.12337. Epub 2020 Dec 20. J Inherit Metab Dis. 2021. PMID: 33300147
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: knerr i. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Ornithine transcarbamylase deficiency: A diagnostic odyssey.
Knerr I, Cassiman D. Knerr I, et al. J Inherit Metab Dis. 2022 Jul;45(4):661-662. doi: 10.1002/jimd.12530. Epub 2022 Jul 10. J Inherit Metab Dis. 2022. PMID: 35734906 Free PMC article. No abstract available.
126 results