Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management

Eva Morava^{1

2}

Affiliations

¹ Kindermetabole ziekten, Universiteit Ziekenhuis Leuven, Leuven, Belgium. emoravakozicz@tulane.edu.
² Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave SL#31, New Orleans, LA, 70112, USA. emoravakozicz@tulane.edu.

Editorial

Eva Morava. J Inherit Metab Dis. 2017 Jan.

. 2017 Jan;40(1):1-2.

doi: 10.1007/s10545-016-9998-x.

Eva Morava^{1

2}

¹ Kindermetabole ziekten, Universiteit Ziekenhuis Leuven, Leuven, Belgium. emoravakozicz@tulane.edu.
² Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave SL#31, New Orleans, LA, 70112, USA. emoravakozicz@tulane.edu.

No abstract available

Comment on

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ. Barić I, et al. J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. J Inherit Metab Dis. 2017. PMID: 27671891 Free PMC article. Review.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.