Response to Neeleman et al

Affiliations

¹ Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Jchinsky1@gmail.com.
² The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.
³ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

Free article

Comment

Jeffrey M Chinsky et al. Genet Med. 2020 Feb.

Free article

. 2020 Feb;22(2):439-440.

doi: 10.1038/s41436-019-0659-y. Epub 2019 Oct 1.

¹ Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Jchinsky1@gmail.com.
² The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.
³ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

No abstract available

Comment on

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Chinsky JM, et al. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Genet Med. 2017. PMID: 28771246 Free PMC article. Review.
Heme as an initial treatment for severe decompensation in tyrosinemia type 1.
Neeleman RA, Wilson JHP, Williams M, Langendonk JG. Neeleman RA, et al. Genet Med. 2020 Feb;22(2):437-438. doi: 10.1038/s41436-019-0658-z. Epub 2019 Oct 1. Genet Med. 2020. PMID: 31570800 No abstract available.

1. Neeleman RA, Wilson JHP, Williams M, Langendonk JG Heme as an initial treatment for severe decompensation in tyrosinemia type I. Genet Med (in press).
1. Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendation. Genet Med. 2017;19:1380. - DOI
1. de Laet C, Dionisi-Vici C, Leonard JV, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013;8:8. - DOI
1. Geppert J, Stinton C, Freeman K, et al. Evaluation of presymptomatic nitisinone treatment on long-term outsomes in tyrosinemia type 1 patients: a systematic review. Orphanet J Rare Dis. 2017;12:154. - DOI
1. Yazici H, Canda E, Esra ER, et al. Tyrosinemia type 1 and reversible neurogenic crisis after one month interruption of nitisinone. J Pediatr Res. 2018;5 suppl 1:57–59. - DOI