Publikace
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | 3. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
- Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease2023 | 1. lékařská fakulta
- Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease2022 | 1. lékařská fakulta
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Význam nových laboratorních technik v dia-gnostice Niemann-Pickovy choroby typu C2020 | 1. lékařská fakulta
- Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease2019 | 1. lékařská fakulta, 2. lékařská fakulta
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 1. lékařská fakulta
- A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)2016 | 1. lékařská fakulta
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis2016 | 1. lékařská fakulta
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