Results 101 to 110 of about 9,391,147 (295)

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

Orphanet Journal of Rare Diseases, 2020
Background How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined.
Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria   +13 more
doaj   +1 more source

Hepatocellular carcinoma in Gaucher disease: an international case series

Journal of Inherited Metabolic Disease, 2018
Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis,
M. Regenboog, L. van Dussen, J. Verheij, N. Weinreb, D. Santosa, S. vom Dahl, D. Häussinger, M. Müller, A. Canbay, M. Rigoldi, A. Piperno, T. Dinur, A. Zimran, P. Mistry, Karima Yousfi Salah, N. Belmatoug, D. Kuter, C. Hollak   +17 more
semanticscholar   +1 more source

No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]

, 2016
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core   +1 more source

Nejire/dCBP-mediated control of H3 acetylation and transcriptional regulation by testis-specific Plus3 domain proteins during Drosophila spermatogenesis [PDF]

, 2018
Spermatogenesis describes the development from germ line stem cells to highly specialized sperm. Drosophila melanogaster spermatogenesis is a good model system for chromatin remodelling processes as many of these processes are similar in mammals and in ...
Hundertmark, Tim
core   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

American journal of hematology/oncology, 2017
The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long‐term effectiveness of ...
A. Zimran, N. Belmatoug, B. Bembi, P. Deegan, D. Elstein, D. Fernandez-Sasso, P. Giraldo, O. Goker-Alpan, H. Lau, E. Lukina, Z. Panahloo, I. Schwartz   +11 more
semanticscholar   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
K. J. Kinghorn, A. Asghari, J. I. Castillo-Quan   +2 more
semanticscholar   +1 more source

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat [PDF]

, 2014
Objective: Eliglustat is an investigational oral substrate reduction therapy for Gaucher disease type 1 (GD1). Its skeletal effects were evaluated by prospective monitoring of bone mineral density (BMD), fractures, marrow infiltration by Gaucher cells ...
Aguzzi, Rasha, Arreguin, Elsa Avila, Dragosky, Marta, Kamath, Ravi S., Lukina, Elena, Norfleet, Andrea M., Pastores, Gregory M., Peterschmitt, M. Judith, Puga, Ana Cristina, Rosenbaum, Hanna, Rosenthal, Daniel I., Watman, Nora, Zimran, Ari   +12 more
core   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source