[HTML][HTML] Lysosomal storage disease overview

A Sun - Annals of translational medicine, 2018 - ncbi.nlm.nih.gov
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

[HTML][HTML] Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history

HN Baris, IJ Cohen, PK Mistry - Pediatric endocrinology reviews …, 2014 - ncbi.nlm.nih.gov
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

A Narita, K Shirai, S Itamura, A Matsuda… - Annals of clinical …, 2016 - Wiley Online Library
Objective Gaucher disease (GD) is a lysosomal storage disease characterized by a
deficiency of glucocerebrosidase. Although enzyme‐replacement and substrate‐reduction …

[HTML][HTML] Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease

T Shimizu, CR Schutt, Y Izumi, N Tomiyasu, Z Omahdi… - Immunity, 2023 - cell.com
Gaucher disease (GD) is the most common lysosomal storage disease caused by recessive
mutations in the degrading enzyme of β-glucosylceramide (β-GlcCer). However, it remains …

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non …

TM Cox, G Drelichman, R Cravo, M Balwani, TA Burrow… - The Lancet, 2015 - thelancet.com
Background The mainstay of treatment for Gaucher's disease type 1 is alternate-week
infusion of enzyme replacement therapy (ERT). We investigated whether patients stable on …

[HTML][HTML] Erythrocytes as carriers: From drug delivery to biosensors

L Koleva, E Bovt, F Ataullakhanov, E Sinauridze - Pharmaceutics, 2020 - mdpi.com
Drug delivery using natural biological carriers, especially erythrocytes, is a rapidly
developing field. Such erythrocytes can act as carriers that prolong the drug's action due to …

Gaucher disease

A Nagral - Journal of clinical and experimental hepatology, 2014 - Elsevier
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide.
It should be considered in any child or adult with an unexplained splenohepatomegaly and …

[HTML][HTML] The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

NJ Weinreb, O Goker-Alpan, PS Kishnani… - Molecular genetics and …, 2022 - Elsevier
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes

EC Daykin, E Ryan, E Sidransky - Molecular genetics and metabolism, 2021 - Elsevier
Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic
recessively inherited Mendelian disorder with a wide range of phenotypic presentations. The …

Understanding the natural history of G aucher disease

PK Mistry, N Belmatoug, S vom Dahl… - American journal of …, 2015 - Wiley Online Library
Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that
exhibits diverse manifestations, a broad range of age of onset of symptoms, and a wide …