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About 1,931 results

ALLMedicine™ Lysosomal Storage Disease Center

Research & Reviews  959 results

Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis...
https://doi.org/10.1016/j.gene.2021.145527
Gene Alejandra Puentes-Tellez M, Sánchez OF et. al.

Feb 26th, 2021 - Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease produced by the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, leading to glycosaminoglycans (GAGs) accumulation. Since currently available treatm...

Circular RNA-based biomarkers in blood of patients with Fabry disease and related pheno...
https://doi.org/10.1136/jmedgenet-2020-107086
Journal of Medical Genetics; Nowak A, Haddad G et. al.

Feb 6th, 2021 - Fabry disease is a rare X-linked lysosomal storage disease caused by mutations in the galactosidase α gene. Deficient activity of α-galactosidase A leads to glycosphingolipid accumulations in multiple organs. Circular RNAs represent strong regulat...

Long term disease burden post-transplantation: three decades of observations in 25 Hurl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847591
Orphanet Journal of Rare Diseases; Guffon N, Pettazzoni M et. al.

Feb 1st, 2021 - Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) is critical to the survival of these pa...

An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presyna...
https://doi.org/10.1016/j.nbd.2021.105279
Neurobiology of Disease; Odaka H, Numakawa T et. al.

Jan 31st, 2021 - Sialidosis is a neuropathic lysosomal storage disease caused by a deficiency in the NEU1 gene-encoding lysosomal neuraminidase and characterized by abnormal accumulation of undigested sialyl-oligoconjugates in systemic organs including brain. Alth...

Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive...
https://doi.org/10.1016/j.ymthe.2021.01.027
Molecular Therapy : the Journal of the American Society O... Morimoto H, Kida S et. al.

Jan 28th, 2021 - Mucopolysaccharidosis II (MPS II), a lysosomal storage disease caused by mutations in iduronate-2-sulfatase (IDS), is characterized by a wide variety of somatic and neurologic symptoms. The currently approved intravenous enzyme replacement therapy...

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Guidelines  1 results

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic in...
https://doi.org/10.1097/GIM.0b013e318211a7e1
Genetics in Medicine : Official Journal of the American C... Wang RY, Bodamer OA et. al.

Apr 19th, 2011 - To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal ...

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Drugs  1 results see all →

Clinicaltrials.gov  967 results

Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis...
https://doi.org/10.1016/j.gene.2021.145527
Gene Alejandra Puentes-Tellez M, Sánchez OF et. al.

Feb 26th, 2021 - Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease produced by the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, leading to glycosaminoglycans (GAGs) accumulation. Since currently available treatm...

Circular RNA-based biomarkers in blood of patients with Fabry disease and related pheno...
https://doi.org/10.1136/jmedgenet-2020-107086
Journal of Medical Genetics; Nowak A, Haddad G et. al.

Feb 6th, 2021 - Fabry disease is a rare X-linked lysosomal storage disease caused by mutations in the galactosidase α gene. Deficient activity of α-galactosidase A leads to glycosphingolipid accumulations in multiple organs. Circular RNAs represent strong regulat...

Long term disease burden post-transplantation: three decades of observations in 25 Hurl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847591
Orphanet Journal of Rare Diseases; Guffon N, Pettazzoni M et. al.

Feb 1st, 2021 - Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) is critical to the survival of these pa...

An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presyna...
https://doi.org/10.1016/j.nbd.2021.105279
Neurobiology of Disease; Odaka H, Numakawa T et. al.

Jan 31st, 2021 - Sialidosis is a neuropathic lysosomal storage disease caused by a deficiency in the NEU1 gene-encoding lysosomal neuraminidase and characterized by abnormal accumulation of undigested sialyl-oligoconjugates in systemic organs including brain. Alth...

Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive...
https://doi.org/10.1016/j.ymthe.2021.01.027
Molecular Therapy : the Journal of the American Society O... Morimoto H, Kida S et. al.

Jan 28th, 2021 - Mucopolysaccharidosis II (MPS II), a lysosomal storage disease caused by mutations in iduronate-2-sulfatase (IDS), is characterized by a wide variety of somatic and neurologic symptoms. The currently approved intravenous enzyme replacement therapy...

see more →

News  3 results

An Infant With Poor Visual Response
https://www.medscape.com/viewarticle/827671_2

Jul 8th, 2014 - Case Diagnosis The presence of bilateral cherry-red spots, failure to thrive, developmental delays, and hypotonia suggests a lysosomal storage disease. Genetic evaluation is critical for diagnosis. This patient was found to have abnormalities in h...

CHMP Backs Elosulfase Alfa (Vimizim) for Rare Morquio A Syndrome
https://www.medscape.com/viewarticle/820959

Feb 20th, 2014 - The European Medicine Agency's (EMA's) Committee for Medicinal Products for Human Use (CHMP) has recommended approval of elosulfase alfa (Vimizim, BioMarin Europe Ltd) for treatment of mucopolysaccharidosis type IVA (Morquio A syndrome) in patient...

FDA Clears the First Drug for Rare Morquio A Syndrome
https://www.medscape.com/viewarticle/820677

Feb 13th, 2014 - The US Food and Drug Administration (FDA) today approved the first drug for mucopolysaccharidosis type IVA (Morquio A Syndrome), a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfat...

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