Literature DB >> 9323567

Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.

C Steen1, D S Rosenblatt, H Scheying, H C Braeuer, A Kohlschütter.   

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Year:  1997        PMID： 9323567     DOI： 10.1023/a:1005382627986

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  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.

Authors:  M Huemer; C Bürer; P Ješina; V Kožich; M A Landolt; T Suormala; B Fowler; P Augoustides-Savvopoulou; E Blair; K Brennerova; A Broomfield; L De Meirleir; G Gökcay; J Hennermann; P Jardine; J Koch; S Lorenzl; A S Lotz-Havla; J Noss; R Parini; H Peters; B Plecko; F J Ramos; A Schlune; K Tsiakas; M Zerjav Tansek; M R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2014-12-20       Impact factor: 4.982

Review 2.  Sulfur as a signaling nutrient through hydrogen sulfide.

Authors:  Omer Kabil; Victor Vitvitsky; Ruma Banerjee
Journal:  Annu Rev Nutr       Date:  2014       Impact factor: 11.848

3.  Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase.

Authors:  C Lee Elmore; Xuchu Wu; Daniel Leclerc; Erica D Watson; Teodoro Bottiglieri; Natalia I Krupenko; Sergey A Krupenko; James C Cross; Rima Rozen; Roy A Gravel; Rowena G Matthews
Journal:  Mol Genet Metab       Date:  2007-03-21       Impact factor: 4.797

4.  Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.

Authors:  Erin A Paul; Marta Guttenberg; Paige Kaplan; David Watkins; David S Rosenblatt; James R Treat; Bernard S Kaplan
Journal:  Pediatr Nephrol       Date:  2013-03-19       Impact factor: 3.714

Review 5.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

6.  CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.

Authors:  M A Vilaseca; L Vilarinho; P Zavadakova; E Vela; E Cleto; M Pineda; E Coimbra; T Suormala; B Fowler; V Kozich
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.750
  6 in total

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