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Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports
Late-onset Tay-Sachs disease is a form of GM2 gangliosidosis with the first manifestation in adolescence to young adulthood. We present clinical and paraclinical findings in two sisters (19 and 29 years). ...
FH - Neurologie, neurochirurgie, neurovědy
- 2013 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
Purpose: Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis of the pontocerebellar atrophy, late-onset Tay-Sachs disease should be considered i...
Neurosciences (including psychophysiology)
- 2022 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
Cerebellar atrophy is a characteristic sign of late-onset Tay-Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole-brai...
Neurosciences (including psychophysiology)
- 2024 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
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 disease
Background Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal beta-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease
Neurosciences (including psychophysiology)
- 2019 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Psychiatric manifestation of inborn errors of metabolism
C, Tay-Sachs disease, adult form of metachromatic leukodystrophy, X-linked and later onset forms often with a varied psychiatric manifestation (PM) has been described lately. Since the diseases a...
FG - Pediatrie
- 2015 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Structure of the dimeric N-glycosylated form of fungal beta-N-acetylhexosaminidase revealed by computer modeling, vibrational spectroscopy, and biochemical studies
The complete primary structure of the fungal beta-N-acetylhexosaminidase from Aspergillus oryzae was used to construct molecular model of the catalytic subunit of the enzyme, the enzyme dimer, and the N-glycosylated dimer....
CE - Biochemie
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Large propeptides of fungal beta-N-acetylhexosaminidases are novel enzyme regulators that must be intracellularly processed to control activity, dimerization, and secretion into the extracellular environment
Filamentous fungi produce and secrete beta-N-acetylhexosaminidases that can occur in the form of two molecular species containing either one or two molecules of the propeptide noncovalently associated with the enzyme dimer....
CE - Biochemie
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Late-Onset Wilson´s Disease
Wilson´s disease...
FE - Ostatní obory vnitřního lékařství
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Metabolic osteopathy in celiac disease - late onset manifestation
Chapter which is focused on two case of late onset of celiac disease associaded with osteopathy.
FE - Ostatní obory vnitřního lékařství
- 2014 •
- C •
- Link
Rok uplatnění
C - Kapitola v odborné knize
Výsledek na webu
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
A Czech family with three individuals carrying a novel mutation in myelin protein zero gene(P0) is reported.The teo eldest carriers developed progressive sensorineural hearing loss and abnoermal pupillary reaction at age 18....
FH - Neurologie, neurochirurgie, neurovědy
- 2004 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
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