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 · 270 citations · Full text

Life Sciences, Internal Medicine, Clinical Biochemistry +9

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 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 169 citations · Full text

Medicine, Radiology, Diagnostic Pathology +1

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

D. Sean Froese, Martina Huemer, Terttu Suormala et al. · Human Mutation · 2016 · 122 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Medicine, Dermatology, Endocrinology +16