Literature DB >> 35122617

Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.

Tuğçe Aksu Uzunhan1, Bülent Uyanık2, Melike Ersoy3, Yelda Türkmenoğlu4.   

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Year:  2022        PMID： 35122617     DOI： 10.1007/s13760-022-01885-5

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

1.  A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder.

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Varsha Reddy; Jitendra Saini; Maya Bhat
Journal:  Indian J Pediatr       Date:  2021-08-03       Impact factor: 1.967

2.  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

3.  Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Authors:  Derek Wong; Silvia Tortorelli; Lisa Bishop; Elizabeth A Sellars; Lisa A Schimmenti; Natalie Gallant; Carlos E Prada; Robert J Hopkin; Nancy D Leslie; Susan A Berry; David S Rosenblatt; Amy L Fair; Dietrich Matern; Kimiyo Raymond; Devin Oglesbee; Piero Rinaldo; Dimitar Gavrilov
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822

Review 4.  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
  4 in total

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