Lysosomal Storage Disorders (LSD)
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
... for LSD diagnosis is not uni- versally accepted by medical ...the lysosomal storage disorders Fabry, Gaucher, Hunter (Mucopolysaccharidosis II) and Maroteaux-Lamy (Mu- copolysaccharidosis ...
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mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy
... skeletal disorders is largely ...in lysosomal storage disorders (LSDs). We found that lysosomal dysfunction induces a constitutive lysosomal association and consequent activation ...
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Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders
... for lysosomal storage disorders (LSD ’ s) illustrate these ...limitations. LSD ’ s are inherited disorders of lysosomal metabolism with a wide variety in clinical ...
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Lysosomal storage disorders: Molecular basis and laboratory testing
... Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific ...
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Recent advances in gene therapy for lysosomal storage disorders
... Abstract: Lysosomal storage disorders (LSDs) are a group of genetic diseases that result in metabolic derangements of the ...these disorders, including the first human ...therapy, ...
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Lysosomal Storage Disorders in the Newborn
... Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live ...rare disorders are seldom considered when evaluating a sick ...
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Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
... Abstract: The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan (GAG) metabolism. These diseases are classified by enzyme deficiency ...
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Histopathologic Correlates of Radial Stripes on MR Images in Lysosomal Storage Disorders
... We describe a peculiar MR imaging appearance consisting of radially oriented stripes of apparently normal signal intensity within otherwise diffusely ab- normal cerebral white matter in three patients with ...
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act
... neuronopathic lysosomal storage disorders may be facili- tated through the availability of better instruments assessing neurological and behavioral functions in a standardized way as proposed in the ...
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
... The most important challenge for this kind of enrich- ment is that local sequence architecture has a strong ef- fect on the efficiency of DNA enrichment for individual exons [31]. Exons close to repetitive regions are ...
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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
... The results from the LAMP-1/saposin C first-tier screen showed almost no difference between the pa- tient groups and the control group. Of the 12 disor- ders included in the study, only I-cell and Fabry disease showed ...
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Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.
... The male FD mice, completely de fi cient in α -galactosidase A activity, show elevated hepatic and splenic Gb3 (15-fold and 35-fold, respective- ly), a fi nding not made for the other LSD models studied (Tables 1 ...
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Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
... Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative ...the LSD Niemann-Pick type C1 disease (NPC1) and ...
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Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder
... Lysosomal storage disorders (LSDs) are a collection of over 70 multiorgan, progressive diseases affect- ing approximately 1 in 5000 individuals ...of LSD patients have neurologic symp- toms, ...
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<p>Lysosomal Acid Lipase Deficiency: Therapeutic Options</p>
... of storage (foam cells) can be seen in other relatively more common lysosomal storage disorders (LSD) such as Gaucher disease (GD) and Niemann-Pick disease (NPD) types B and C; thus if ...
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Diagnostic methods for Lysosomal Storage Disease
... Lysosomal storage disorders (LSD) are a class of metabolic disturbance in which manifested by the accumulation of large molecules (complex lipids, glycoproteins, glycosaminoglycans, ...
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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
... metabolic disorders before being tested for MPS ...of lysosomal storage disorders (LSDs) in 54 case series of NIHF published from 1979 through January 2014 [10], LSDs were not tested in 72% of ...
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Sanfilippo syndrome: causes, consequences, and treatments
... neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate ...
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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
... The mucopolysaccharidoses (MPS) are a group of inherited diseases known as lysosomal storage disorders. Each MPS is caused by the deficiency of a different en- zyme that catalyzes the stepwise ...
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Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease
... childhood lysosomal storage disease create a dif- ferent pattern of organ and cellular failure than seen in PD and LBD, where relatively modest but sustained lipid level abnormalities create ...
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