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deficiency
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MUDr. László Wenchich Ph.D.
External academic staff at First Faculty of Medicine
95 publications
Publications
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene
2011 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
First Faculty of Medicine
publication
Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b
2010 |
First Faculty of Medicine
publication
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency
2001 |
First Faculty of Medicine
publication
Novel compound heterozygous mutation in a boy with dihydrolipoamide dehydrogenase deficiency
Publication without faculty affiliation
publication
Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder
2019 |
First Faculty of Medicine
publication
The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome
2019 |
First Faculty of Medicine
publication
The Effect of Very-Low-Calorie Diet on Mitochondrial Dysfunction in Subcutaneous Adipose Tissue and Peripheral Monocytes of Obese Subjects with Type 2 Diabetes Mellitus
2017 |
First Faculty of Medicine, Third Faculty of Medicine
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