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Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
Alpha-Mannosidosis. Clinical Manifestations and Results of Laboratory...
FG - Pediatrie
- 2008 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Natural history of alpha mannosidosis a longitudinal study
Background: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing: In this multicenter longitudinal study clinical data ...
EB - Genetika a molekulární biologie
- 2013 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
Mannosidosis -alpha is a lysosomal storage disorder caused by ?-mannosidase deficiency. Clinical course of the disease ranges from severe infantile to milder juvenile type and includes mental retardation, skeletal deformities, coars...
EA - Morfologické obory a cytologie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis
Objective: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients al...
Endocrinology and metabolism (including diabetes, hormones)
- 2021 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
-mannosidosis whose clinical manifestation includes deafness and mental retardation. Since 1986, only 23 patients with beta-mannosidosis and biallelic MANBA variants have been described worldwide. RESULTS: We now report on further 1...
Neurosciences (including psychophysiology)
- 2020 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
Introduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for...
Paediatrics
- 2024 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from ? -mannosidosis patiens
Alfa-Mannosidosis is a lysosomal storage disorder caused by alfa-mannosidase defficiency. The aim of the study was to analyse mitochondrial ultrastructure and function in cultivated fibroblasts from three pacients with alfa-mannosidase. In a...
ED - Fyziologie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Inhibition of alpha-amylase and alpha-glucosidase with natural substances
Review of natural compounds with inhibition activity on alpha-amylase and alpha-glucosidase and with possible usage in diagnosis and treatment of diabetes and obesity....
FR - Farmakologie a lékárnická chemie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Stereoselective Synthesis of (E)-alpha-Fluorovinylphosphonates from alpha,alpha-Difluorophosphonates
alpha,alpha-Difluorophosphonates, which are readily available from alkyl halides and diethyl difluoromethylphosphonate, undergo elimination of hydrogen fluoride using alkali metal alkoxides to provide alpha-fluorovinylphosp...
CC - Organická chemie
- 2011 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Water quality - Determination of gross alpha activity
The standard is applicable for determination of gross alpha in waters. The standard states two methods. Gross alpha determination is not an absolute determination of the sample alpha radioactive content, but a relative dete...
Nuclear physics
- 2021 •
- Hleg
Rok uplatnění
Hleg - Výsledky promítnuté do právních předpisů a norem
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