Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
Arnaud Wiedemann, Abderrahim Oussalah, Nathalie Lamireau, Maurane Théron, Mélissa Julien, Jean-Philippe Mergnac, Baptiste Augay, Pauline Deniaud, Tom Alix, Marine Frayssinoux, François Feillet, Jean‐Louis Guéant
Abstract
status, including homocysteine and methylmalonic acid, when usual causes of these manifestations are discarded in adult patients.
Topics & Concepts
HypotoniaVitamin B12MedicineMethylmalonic aciduriaAtaxiaGenetic heterogeneityMethylmalonic acidPediatricsGeneticsInternal medicineBiologyPhenotypePsychiatryGeneFolate and B Vitamins ResearchPorphyrin Metabolism and DisordersMetabolism and Genetic Disorders