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ATP7A
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MUDr. Eva Flachsová Ph.D.
External person at First Faculty of Medicine
31 publications
Publications
publication
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease
2017 |
First Faculty of Medicine
publication
Mutation screening in the ATP7A gene in czech patients with Menkes disease: identification of a novel mutation
Publication without faculty affiliation
publication
Mutations in genes coding for ATP7A and ATP7B (causing Mankes and Wilson disease) in Czech Republic
Publication without faculty affiliation
publication
Mutation Screening in the ATP7A and ATP7B Genes in Czech patients with Menkes Disease and Wilson Disease
Publication without faculty affiliation
publication
Low Birth Weight is Associated witj More Severe Course of Steroid-Sensitive Nephrotic Syndrome in Children, Multicentric Study
2024 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Science, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
publication
Low Birth Weight is Associated with More Severe Course of Steroid-Sensitive Nephrotic Syndrome in Children, Multicentric Study
2024 |
Second Faculty of Medicine, Faculty of Science
publication
Abnormal kidney ultrasound and function in a five-year-old boy born prematurely with a birth weight of 370 grams
2023 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Shared decision-making and goals of care setting in a child with progressive renal failure caused by primary hyperoxaluria
2023 |
First Faculty of Medicine
publication
A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family
2007 |
First Faculty of Medicine
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