Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis2016 | 1. lékařská fakulta
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years2014 | 1. lékařská fakulta
- Mutace v genu DNAJC5 kodujici cysteine-string protein alfa jsou pricinou autozomalne dominantni adultni formy neuronalni ceroidni lipofuscinozy.2011 | 1. lékařská fakulta
- 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
- Extremely low birthweight neonates with phenylketonuria require special dietary management2021 | 1. lékařská fakulta, Ústřední knihovna
- Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?2021 | 1. lékařská fakulta
Loading network view...