Literature DB >> 23764205

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.

Carlo Dionisi-Vici1, Diego Martinelli, Ferdinando Ceravolo, Sara Boenzi, Anna Pastore.   

Abstract

Entities:  

Keywords:  Cobalamin C defect; Homocysteine; Hydroxocobalamin; Methylmalonic aciduria with homocystinuria

Mesh：

Substances：

Year:  2013        PMID： 23764205     DOI： 10.1016/j.ymgme.2013.05.013

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  6 in total

1.  Catalytic effect of riboflavin on electron transfer from NADH to aquacobalamin.

Authors:  Ilia A Dereven'kov; Luciana Hannibal; Sergei V Makarov; Pavel A Molodtsov
Journal:  J Biol Inorg Chem       Date:  2019-11-26       Impact factor: 3.358

2.  Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

Authors:  Jens C Koenig; Frank Rutsch; Clemens Bockmeyer; Matthias Baumgartner; Bodo B Beck; Brigitta Kranz; Martin Konrad
Journal:  Pediatr Nephrol       Date:  2015-04-18       Impact factor: 3.714

3.  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

4.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       Impact factor: 4.982

5.  A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

Authors:  Jenny Bellerose; Mathilde Neugnot-Cerioli; Karine Bédard; Catherine Brunel-Guitton; Grant A Mitchell; Luis H Ospina; Miriam H Beauchamp
Journal:  JIMD Rep       Date:  2015-11-26

Review 6.  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 in total

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