Unifying biology of neurodegeneration in lysosomal storage diseases
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12833
Abstract: There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional… read more here.
Keywords: unifying biology; lysosomal storage; biology; storage diseases ... See more keywords
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2099
Abstract: Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well… read more here.
Keywords: glycogen storage; exome sequencing; storage diseases; whole exome ... See more keywords
Clinical implementation of gene panel testing for lysosomal storage diseases
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.527
Abstract: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic… read more here.
Keywords: implementation gene; lysosomal storage; clinical implementation; storage diseases ... See more keywords
Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience
Sign Up to like & getrecommendations! Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5547
Abstract: To evaluate the results of prenatal enzymatic diagnostic studies for detecting lysosomal storage diseases (LSDs) during 1992 to 2018. read more here.
Keywords: storage diseases; lysosomal storage; prenatal enzymatic; enzymatic diagnosis ... See more keywords
[Cardiac involvement in storage diseases : Role of genetic diagnostics].
Sign Up to like & getrecommendations! Published in 2019 at "Herz"
DOI: 10.1007/s00059-019-4824-5
Abstract: In clinical practice cardiac involvement in patients with storage disorders is often diagnosed at a late and advanced stage of the disease with pronounced organ damage. As the currently available targeted therapies can only stop the… read more here.
Keywords: involvement storage; genetic testing; storage; cardiac involvement ... See more keywords
Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid.
Sign Up to like & getrecommendations! Published in 2022 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00893-3
Abstract: Whereas significant strides have been made in the treatment of lysosomal storage diseases (LSDs), the neuronopathy associated with these diseases remains impervious mainly because of the blood-brain barrier (BBB), which prevents delivery of large molecules… read more here.
Keywords: cerebrospinal fluid; blood brain; brain barrier; storage diseases ... See more keywords
Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones
Sign Up to like & getrecommendations! Published in 2018 at "Chemical Science"
DOI: 10.1039/c7sc04712f
Abstract: We review pharmacological chaperones used in lysosomal storage diseases, emphasizing medicinal chemistry approaches and mechanisms of action. read more here.
Keywords: lysosomal storage; tuning protein; chemistry; storage diseases ... See more keywords
Delineating the neuropathology of lysosomal storage diseases using patient-derived induced pluripotent stem cells.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cells and development"
DOI: 10.1089/scd.2021.0304
Abstract: Lysosomal storage diseases (LSD) are inherited metabolic diseases caused due to deficiency of lysosomal enzymes, essential for the normal development of the brain and other organs. Approximately two-thirds of the patients suffering from LSD exhibit… read more here.
Keywords: stem cells; storage diseases; lysosomal storage; using patient ... See more keywords
Neurological manifestations of lysosomal storage diseases
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000002611
Abstract: Lysosomal storage diseases (LSDs) encompass a group of rare inherited metabolic disorders characterized by the accumulation of undegraded substrates within lysosomes, leading to multisystemic manifestations, including profound neurological involvement. This article provides a concise overview… read more here.
Keywords: lysosomal storage; storage diseases; medicine; neurological manifestations ... See more keywords
The surgical management of spinal disorders in lysosomal storage diseases: a systematic review
Sign Up to like & getrecommendations! Published in 2022 at "ANZ Journal of Surgery"
DOI: 10.1111/ans.17430
Abstract: The skeletal manifestations of lysosomal storage diseases (LSDs) are largely refractory to available therapeutic modalities. Consequently, there is an increasing need to manage their spinal deformities. The aim was to perform a systematic review to… read more here.
Keywords: lysosomal storage; surgical management; storage diseases; systematic review ... See more keywords
The Usefulness of Forced Oscillation Technique to assess lung functions in Patients with Lysosomal Storage Diseases
Sign Up to like & getrecommendations! Published in 2018 at "European Respiratory Journal"
DOI: 10.1183/13993003.congress-2018.pa2413
Abstract: Background: The loss of enzymatic activity in lysosomal storage diseases (LSD) results in progressive cellular accumulation of macromolecules. In these patients, respiratory dysfunction is usually a leading cause of morbidity and mortality. Thus, clinical assessments… read more here.
Keywords: oscillation technique; lysosomal storage; rrs5; study ... See more keywords