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Inherited metabolic disorders
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MUDr. Hana Krejčová Ph.D.
Academic staff at First Faculty of Medicine
31 publications
Publications
publication
Children's Ophthalmology
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Education, Faculty of Medicine in Hradec Králové
publication
Advances in treatment of inherited metabolic disorders with neurological symptomatology
2018 |
First Faculty of Medicine
publication
Inherited metabolic disorders in case reports
2016 |
First Faculty of Medicine
publication
Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder
2022 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
publication
Metabolic myopathies
2022 |
First Faculty of Medicine
publication
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
2022 |
First Faculty of Medicine
publication
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases
2022 |
First Faculty of Medicine
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
First Faculty of Medicine
publication
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
2022 |
First Faculty of Medicine
publication
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies
2021 |
First Faculty of Medicine
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