Diagnostic work‐up and management of patients with isolated methylmalonic acidurias in European metabolic centres
T. Zwickler(Heidelberg University), Friederike Hörster(Heidelberg University), Halil İbrahim Aydın(Hacettepe University Hospital), Gülbin Gökçay(Istanbul University), Anibh M. Das(Medizinische Hochschule Hannover), S Geb(Goethe University Frankfurt), Esther M. Maier(Ludwig-Maximilians-Universität München), U. Wendel(Düsseldorf University Hospital), Matthias R. Baumgartner(University Children's Hospital Zurich), Frits A. Wijburg(Emma Kinderziekenhuis), Alberto Burlina(University of Padua), Nathalie Guffon(Hôpital Edouard Herriot), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Olaf A. Bodamer(Broad Institute), J. B. C. de Klerk(Erasmus MC - Sophia Children’s Hospital), Stefan Kölker(Heidelberg University), Martin Lindner(Heidelberg University), J. H. Walter(Royal Manchester Children's Hospital), Bernd Schwahn(Boston Children's Hospital), Edith Müller(Heidelberg University), Stephanie Grünewald(Great Ormond Street Hospital)
Cited by 43
Related Papers
Analytical and clinical validation of a microbial cell-free DNA sequencing test for infectious disease
|Nature Microbiology|2019|1k
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
|Proceedings of the National Academy of Sciences|2008|725
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
|American Journal of Medical Genetics Part A|2015|617