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Martin Reboun
Martin Reboun
First Faculty of Medicine, Charles University in Prague
Cholesteryl ester
Intracellular lipid transport
Mutant protein
NPC1
Lysosomal storage disease
2
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1
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0
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2024
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X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.
2021
Neuro endocrinology letters
Marketa Zemanova
Petr Chrastina
Lenka Dvorakova
Martin Reboun
Hana Vlaskova
Helena Jahnová
Nabil El-Lababidi
Jana Cepova
Tomas Honzik
Jiri Zeman
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
2020
Orphanet Journal of Rare Diseases
Dita Musalkova
Filip Majer
Ladislav Kuchař
Ondrej Luksan
Befekadu Asfaw
Hana Vlaskova
Gabriela Storkanova
Martin Reboun
H. Poupetova
Helena Jahnová
Helena Hůlková
Jana Ledvinová
Lenka Dvorakova
Jakub Sikora
Milan Jirsa
Marie T. Vanier
M. Hrebicek
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