Lysosomal storage disorders
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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Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders
... for lysosomal storage disorders (LSD ’ s) illustrate these ...inherited disorders of lysosomal metabolism with a wide variety in clinical symptoms, ranging from severe life-threatening ...
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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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Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
... of lysosomal storage disorders caused by inborn errors of glycosaminoglycan (GAG) ...debris. Lysosomal enzymes are synthesized in the endoplasmic reticulum, tagged with mannose-6-phosphate in ...
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Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
... Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic ...Maroteaux-Lamy disorders discrimina- ...
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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
... for lysosomal storage disorders have not been systematically ...which lysosomal diseases had drug de- velopment pressure and what distinguished those with successful development and approvals ...
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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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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
... ysosomal storage disorders (LSDs) represent a group of ⬎ 45 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein or, in a few cases, from nonlyso- somal ...
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2013/14 NHS STANDARD CONTRACT FOR LYSOSOMAL STORAGE DISORDERS SERVICE (CHILDREN)
... Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α -Galactosidase A. The disorder is pan-ethnic, occurs with a prevalence of 1:117,000 births and neuropathic pain is most often ...
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
... Case P9 was shown to have juvenile type 2 gangliosidosis (GM2), following a delayed suspicion of a storage disorder due to the late onset and low specificity of symptoms, and slow progression of the disease. In ...
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Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.
... We then compared the levels of lipids in plasma samples obtained from the various disease models (Table 4). None of the quanti fi ed glycosphingolipids (Cer, GlyCer, LacCer and Gb3) was signi fi cantly in- creased in any ...
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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 ...
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Lysosomal dysfunction in proteinopathic neurodegenerative disorders: possible therapeutic roles of cAMP and zinc
... LAMP: Lysosomal-associated membrane protein: ALR: autophagic lysosome reformation; LCL: Neuronal ceroid lipofuscinosis; LIMP-2: Lysosomal integral membrane protein-2; LSDs: Lysosomal storage ...
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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 ...
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Diagnostic methods for Lysosomal Storage Disease
... (1). Lysosomal storage disorders (LSD) are a class of metabolic disturbance due to an absence of more than 40 hydrolytic enzymes in which manifested by the accumulation of large molecules in ...
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Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases
... Presuming that iPSC-derived hematopoietic cells may have fewer immunological complications than regular donor cells in hematopoietic cell transplantation (HCT), Tolar and colleagues [11] generated iPSCs from a patient ...
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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] ...
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Parkinson's disease and metal storage disorders: a systematic review.
... metal storage disorders by exploring published accounts of Parkinsonism in patients with a previously diagnosed metal storage ...metal storage disorders displaying Parkinsonism are of a ...
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