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Publications by Jan Smeitink

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

American Journal of Human Genetics
Genetics
2012English

Primary Coenzyme Q10 Deficiency-7: Expanded Phenotypic Spectrum and a Founder Mutation in Southern Chinese

npj Genomic Medicine
GeneticsMolecular Biology
2019English

Fear of Disease Progression in Carriers of the M.3243A > G Mutation

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2018English

Problems of Adults With a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2012English

Functional Consequences of Mitochondrial tRNATrp and tRNAArg Mutations Causing Combined OXPHOS Defects

European Journal of Human Genetics
Genetics
2009English

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