Martina Huemer

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 176 citations · Full text

Mitochondrial Myopathy, Mitophagy, Mendelian Disorder +14

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

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 165 citations · Full text

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

D. Sean Froese, Martina Huemer, Terttu Suormala et al. · Human Mutation · 2016 · 120 citations

Residual Enzyme Activity, Mendelian Disorder, Genetic Disorder +13

Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities.

Christian Huemer, Hilary Kitson, Peter N. Malleson et al. · PubMed · 2001 · 109 citations