Fróði Joensen

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

Allan M. Lund, Fróði Joensen, David M. Hougaard et al. · Journal of Inherited Metabolic Disease · 2007 · 51 citations

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

Éva Morava, Ulrike Steuerwald, Rosalba Carrozzo et al. · Mitochondrion · 2009 · 50 citations

Clinical Course, Phoniatrics, Biochemical Markers +8

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Anna Pelet, Václava Škopová, Ulrike Steuerwald et al. · Human Molecular Genetics · 2019 · 30 citations

Paics Deficiency, Engineering, Genetics +16

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

Sabine Grønborg, Lotte Risom, Jakob Ek et al. · European Journal of Human Genetics · 2018 · 15 citations · Full text

Faroese Founder Variant, Early Onset, Progressive Encephalopathy +9