About 920 results

ALLMedicine™ Lysosomal Storage Disease Center

Research & Reviews  353 results

Beneficial screening of Fabry disease in patients with hypohidrosis.
The Journal of Dermatology; Nagai-Sangawa M, Fukunaga A et. al.

Nov 20th, 2021 - Fabry disease (FD), which is a lysosomal storage disease resulting from a deficiency of α-galactosidase A, leads to the accumulation of globotriaosylceramide in various tissues and multiorgan impairment. Early diagnosis is important to improve lon...

Evaluation of the long-term treatment effects of intravenous idursulfase in patients wi...
Orphanet Journal of Rare Diseases; Muenzer J, Botha J et. al.

Nov 1st, 2021 - Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) idursulfase can stabilize or improve m...

Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I ...
Bone Lau YK, Peck SH et. al.

Oct 26th, 2021 - Mucopolysaccharidosis (MPS) I is a lysosomal storage disease characterized by deficient activity of the enzyme alpha-L-iduronidase, leading to abnormal accumulation of heparan and dermatan sulfate glycosaminoglycans in cells and tissues. Patients ...

Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency.
Expert Opinion on Drug Safety; Ezgü F

Oct 20th, 2021 - Lysosomal acid lipase deficiency is an autosomal recessive progressive lysosomal storage disease that mainly affects the liver, intestine growth, and causes dyslipidemia. The disease presents as two major phenotypes: the severe early-onset and lat...

Avalglucosidase alfa: First Approval.
https://doi.org/10.1007/s40265-021-01600-3 10.21037/atm.2019.04.15 10.3390/biom10091339 10.1074/jbc.M409676200 10.1016/j.nmd.2018.12.004 10.1038/mt.2009.37 10.1016/j.ymgme.2020.12.064 10.1016/j.ymgme.2020.12.058
Drugs Dhillon S

Oct 1st, 2021 - Avalglucosidase alfa (NEXVIAZYME™; avalglucosidase alfa-ngpt) is a hydrolytic lysosomal glycogen-specific recombinant human α-glucosidase product being developed by Sanofi Genzyme (formerly Genzyme Corporation) for the treatment of Pompe disease. ...

see more →

Drugs  1 results see all →

Clinicaltrials.gov  8 results

Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease

May 28th, 2021 - Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. To date a...

Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)

May 18th, 2021 - Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective de...

Biomarker for Patients With Fabry Disease (BioFabry)

May 13th, 2021 - Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. Annual incidence is reported to be ...

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Feb 23rd, 2021 - The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditi...

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Oct 4th, 2019 - Children who have lysosomal disease experience declines in health status and central nervous system integrity which result in motor, communication, self-care, learning and behavioral challenges. Medical interventions such as enzyme replacement the...

see more →

News  6 results

Dr. Grabowski Explains the Effects of Enzyme Therapy

Dec 20th, 2020 - Gregory A. Grabowski, MD, professor, University Cincinnati, Department of Pediatrics, director, Division of Human Genetics, director, Medical Genetics Training Program, Cincinnati Children's Hospital Medical Center, discusses the immense benefit t...

An Infant With Poor Visual Response

Jul 9th, 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...

FDA's Rare Disease Program: A Rare Opportunity to Help Kids

Mar 18th, 2014 - Editor's note: The US Food and Drug Administration (FDA) has just approved the first product under the new rare pediatric disease priority review voucher (PRV) program. Elosulfase alfa (Vimizim™) is a new type of enzyme replacement therapy (ERT) t...

CHMP Backs Elosulfase Alfa (Vimizim) for Rare Morquio A Syndrome

Feb 21st, 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

Feb 14th, 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...

see more →