# Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/phenotype-treatment-practice-and-outcome-in-the-cobalamin-dependent/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Martina Huemer,Daria Diodato,Diego Martinelli,Giorgia Olivieri,Henk J. Blom,Florian Gleich,Stefan Kölker,Viktor Kožich,Andrew A. M. Morris,Burkhardt Seifert,D. Sean Froese,Matthias R. Baumgartner,Carlo Dionisi‐Vici,Carlos Alcalde Martín,Martina Baethmann,Diana Ballhausen,Javier Blasco‐Alonso,Nikolas Boy,María Bueno,Rosa Burgos Peláez,R. Cerone,B. Chabrol,Kimberly A. Chapman,María L. Couce,Ellen Crushell,J. Dalmau Serra,Luísa Diogo,Can Fıçıcıoğlu,M.C. García Jiménez,Maria Teresa García Silva,Ana Gaspar,Matthias Gautschi,Domingo González‐Lamuño,Sofía Gouveia,Stephanie Grünewald,Christian J. Hendriksz,Mirian C. H. Janssen,Pavel Ješina,Johannes Koch,Vassiliki Konstantopoulou,Christian Lavigne,Allan M. Lund,Esmeralda Martins,Silvia Meavilla Olivas,Karine Mention,Fanny Mochel,Helen Mundy,Elaine Murphy,Stéphanie Paquay,Consuelo Pedrón‐Giner,María Ángeles Ruiz Gómez,Saikat Santra,Manuel Schiff,Ida Vanessa Döederlein Schwartz,Sabine Scholl‐Bürgi,Aude Servais,Anastasia Skouma,Christel Tran,Inmaculada Vives Piñera,John H. Walter,James D. Weisfeld‐Adams |
| Citations | 76 |
| DOI | 10.1002/jimd.12041 |
| Fields | Agricultural and Biological Sciences,Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://pure.amsterdamumc.nl/files/157057899/Phenotype-treatment-practice-and-outcome-in-the-cobalamin-dependent-remethylation-disorders-and-mthfr-deficiency-data-.pdf |
| OpenAlex ID | https://openalex.org/W2889798922 |
| PMID | 30773687 |
| Type | article |
| Year | 2019 |

## Paper authors

- [Rosa Burgos Peláez](https://scholariq.org/researchers/rosa-burgos-pelaez/)
- [Javier Blasco‐Alonso](https://scholariq.org/researchers/javier-blasco-alonso/)

## Paper primary topic

- [Folate and B Vitamins Research](https://scholariq.org/topics/folate-and-b-vitamins-research/)

## Paper topics

- [Folate and B Vitamins Research](https://scholariq.org/topics/folate-and-b-vitamins-research/)
- [Porphyrin Metabolism and Disorders](https://scholariq.org/topics/porphyrin-metabolism-and-disorders/)
- [Cassava research and cyanide](https://scholariq.org/topics/cassava-research-and-cyanide/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.