Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data-Reference-Cited by-同舟云学术

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Published:2014-12-20 Issue:5 Volume:38 Page:957-967
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Huemer M.,Bürer C.,Ješina P.,Kožich V.,Landolt M. A.,Suormala T.,Fowler B.,Augoustides- Savvopoulou P.,Blair E.,Brennerova K.,Broomfield A.,De Meirleir L.,Gökcay G.,Hennermann J.,Jardine P.,Koch J.,Lorenzl S.,Lotz-Havla A. S.,Noss J.,Parini R.,Peters H.,Plecko B.,Ramos F. J.,Schlune A.,Tsiakas K.,Zerjav Tansek M.,Baumgartner M. R.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-014-9803-7

Reference25 articles.

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2. Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP (2009) Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis 32(6):728–31

3. Dionisi-Vici C, Martinelli D, Ceravolo F, Boenzi S, Pastore A (2013) Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect. Mol Genet Metab 109(4):329–330

4. Fowler B, Schutgens RBH, Rosenblatt DS, Smit GPA, Lindemans J (1997) Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). J Inher Metab Dis 20:731–741

5. Greitz D (2007) Paradigm shift in hydrocephalus research in legacy of Dandy’s pioneering work: rationale for third ventriculostomy in communicating hydrocephalus. Childs Nerv Syst 23:487–489

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