Lysosomal Storage Diseases
Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases
... of lysosomal storage diseases (LSDs) in Ukraine, to determine this parameter in blood plasma of the patients with various lysosomal diseases and to assess the effect of the presence of ...
10
Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases
... Lysosomal storage diseases (LSDs) are individually rare but collectively common; their estimated total prevalence is 1 out of 8,000 live births ...
10
Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases
... by lysosomal enzymes requires the presence of additional proteins, which have been called activator ...a storage process all remain to be ...with lysosomal storage ...genetic diseases ...
8
Immune response hinders therapy for lysosomal storage diseases
... of lysosomal storage in tolerized MPS I dogs, this higher dose was not as effective in animals with high- titer ...in lysosomal stor- age in easy-to-treat organs such as liver and spleen (6), and ...
5
Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire
... Developing an instrument in pediatric rare disease populations can be challenging, owing to factors such as small sample size, difficulty interviewing caregivers of re- cently diagnosed, early-onset patients, and rapid ...
14
Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides
... Матеріалом для дослідження була добова сеча здорових дітей віком до 1 року (20 осіб), від 1 до 5 років (20 осіб) та дітей віком старше за 5 років (20 осіб), а також пацієн[r] ...
9
Evaluation of receptor-mediated gene transfer using an integrin -targeting vector as a potential form of therapy for lysosomal storage diseases
... A study by Akii et al. (1996) examined adenoviral- mediated gene transfer of hexosaminidase a chain into Tay- Sachs disease fibroblasts. Adenovirus exploits integrins as a means of entering the cell. Although the enzyme ...
244
A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline
... We would differ with the reviewer in severity of their conclusion. We have, however, modified our comments to reflect the limitations of our data in the light of this comment. The expression of saposins in glia does not ...
58
mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy
... The lysosome is a catabolic organelle devoted to the degra- dation of biological substrates through the coordinated activity of hydrolases that reside within its lumen (3). Defects in lysosom- al function cause ...
14
Hausner, Robert Michael (2008): Degenerative periphere Neuropathien bei Hund und Katze. Dissertation, LMU München: Tierärztliche Fakultät
... galactocerebrosidase (GALC) cDNA. Substrate reduction therapy for lysosomal storage diseases. Hereditary esophageal dysfunction in the Miniature Schnauzer dog.. MRI and electrophysiolo[r] ...
186
FABRY DISEASE AND TREATMENT-AN OVERVIEW
... Lysosomal storage diseases (LSDs) result from a deficiency of a particular lysosomal protein/activity or, in a few cases, from non-lysosomal activities that are involved in ...
6
Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease
... other lysosomal storage diseases, including the sphingolipido- ses (eg, metachromatic leukodystrophy, GM 1 gangliosidosis, and Krabbe disease) and muco- polysaccharidoses (9 –12), as well as man- ...
5
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
... other lysosomal storage diseases (Pompe disease and Mucopolysaccharidosis type I), with three other lysosomal enzymes being tested as reference enzymes ...multiple lysosomal en- zymes ...
10
Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
... Another very rare form of MPS is called Maroteaux–Lamy syndrome. With an incidence somewhere between one case per 250,000 to 600,000 live births, few patients have been diagnosed with this condition worldwide. Like the ...
12
Ex Vivo Gene Therapy for Lysosomal Storage Disease Using Ipsc-Derived Neural Stem Cells
... several lysosomal storage diseases caused by genetic deficiencies in one of the many lysosomal hydrolases expressed throughout the ...prototypical lysosomal storage disease, Sly ...
101
Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response
... immune diseases[10-14], it is likely that lysosomal HS storage initiates aberrant immune responses culminating in the onset of an autoimmune ...
8
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
... Due to the rarity of ASMD and the heterogeneity of its manifestations, ASMD diagnosis may be missed at initial presentation or occur only at advanced stages of disease progression. ASMD should be suspected in patients ...
13
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
... substrate storage anomalies, presentation varies widely, depending on type, quantity, location, and time of extraction of the accumu- lated storage material, thus frequently giving rise to false negatives ...
16
Gaucher disease and the synucleinopathies: refining the relationship
... According to the loss-of-function hypothesis, GBA hap- loinsuffiency might cause its substrate glucocerebroside and other polyunsaturated lipids to accumulate, altering the cell membrane sphingolipid composition. Subse- ...
7
Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
... the lysosomal proteins LAMP-1 and saposin C in dried blood spots showed no sig- nificant correlation between the concentration of each protein marker and the age of the blood spots as determined by the Pearson ...
10