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Hůlková, Helena
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1

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD a..:

Elhassan, Elhussein A.E. ; Kmochová, Tereza ; Benson, Katherine A....
Kidney International Reports.  9 (2024)  7 - p. 2209-2226 , 2024
Link: https://doi.org/10.1016/..
 
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2

Autosomal dominant tubulointerstitial kidney disease: A rev..:

Živná, Martina ; Kidd, Kendrah O. ; Barešová, Veronika...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  3 - p. 309-324 , 2022
Link: https://doi.org/10.1002/..
 
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3

Combined valve replacement and aortocoronary bypass in an a..:

Marek, Josef ; Kuchynka, Petr ; Mikulenka, Vladimir...
Cardiovascular Pathology.  50 (2021)  - p. 107297 , 2021
Link: https://doi.org/10.1016/..
 
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4

Transcript, protein, metabolite and cellular studies in ski..:

Musalkova, Dita ; Majer, Filip ; Kuchar, Ladislav...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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5

Autosomal-dominant adult neuronal ceroid lipofuscinosis cau..:

The Adult NCL Gene Discovery Consortium ; Jedličková, Ivana ; Cadieux-Dion, Maxime...
European Journal of Human Genetics.  28 (2020)  6 - p. 783-789 , 2020
Link: https://doi.org/10.1038/..
 
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6

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was ..:

Jedlickova, Ivana ; Pristoupilova, Anna ; Hulkova, Helena...
Journal of Neuropathology & Experimental Neurology.  79 (2020)  10 - p. 1065-1071 , 2020
Link: https://doi.org/10.1093/..
 
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7

GPD1 Deficiency – Underdiagnosed Cause of Liver Disease:

Tesarova, Marketa ; Stranecky, Viktor ; Konecna, Petra...
The Indian Journal of Pediatrics.  88 (2020)  1 - p. 80-81 , 2020
Link: https://doi.org/10.1007/..
 
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8

SP025Aberrant biogenesis and trafficking of secretory prote..:

Zivna, Martina ; Vyleťal, Petr ; Barešová, Veronika...
Nephrology Dialysis Transplantation.  34 (2019)  Supplement_1 - p. , 2019
Link: https://doi.org/10.1093/..
 
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9

Late diagnosis of mucopolysaccharidosis type IVB and succes..:

Dostalova, Gabriela ; Hlubocka, Zuzana ; Lindner, Jaroslav...
Cardiovascular Pathology.  35 (2018)  - p. 52-56 , 2018
Link: https://doi.org/10.1016/..
 
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10

Teenage-onset progressive myoclonic epilepsy due to a famil..:

van den Ameele, Jelle ; Jedlickova, Ivana ; Pristoupilova, Anna...
Neurology.  90 (2018)  8 - p. , 2018
Link: https://doi.org/10.1212/..
 
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11

Specific storage of glycoconjugates with terminal α-galacto..:

Rybová, Jitka ; Kuchař, Ladislav ; Hůlková, Helena...
Glycobiology.  28 (2018)  6 - p. 382-391 , 2018
Link: https://doi.org/10.1093/..
 
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12

Autosomal Dominant Tubulointerstitial Kidney Disease Due to..:

Yu, Samuel Mon-Wei ; Bleyer, Anthony J. ; Anis, Kisra...
American Journal of Kidney Diseases.  71 (2018)  4 - p. 495-500 , 2018
Link: https://doi.org/10.1053/..
 
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13

Enzyme replacement prevents neonatal death, liver damage, a..:

Majtan, Tomas ; Hůlková, Helena ; Park, Insun...
The FASEB Journal.  31 (2017)  12 - p. 5495-5506 , 2017
Link: https://doi.org/10.1096/..
 
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14

Acadian variant of Fanconi syndrome is caused by mitochondr..:

Hartmannová, Hana ; Piherová, Lenka ; Tauchmannová, Kateřina...
Human Molecular Genetics.  25 (2016)  18 - p. 4062-4079 , 2016
Link: https://doi.org/10.1093/..
 
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15

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autos..:

Bolar, Nikhita Ajit ; Golzio, Christelle ; Živná, Martina...
The American Journal of Human Genetics.  99 (2016)  1 - p. 174-187 , 2016
Link: https://doi.org/10.1016/..
 
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