Results 61 to 70 of about 15,263 (240)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Analysis of Extracellular Vesicles Produced by Gaucher Model Macrophage Cells

, 2020
Gaucher disease is a lysosomal storage disease caused by mutations in the glucocerebrosidase gene, which impairs the function of the enzyme acid β-glucosidase, leading to glucosylceramide and sphingolipids accumulation within the lysosomes of mainly ...
Malta Neri, Lara Chrystina
core  

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BMC Medical Genetics, 2019
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid ...
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth   +22 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Assessment tools in Gaucher Disease: a Scoping Review Protocol

, 2022
Despite the wealth of available information, a clear diagnostic and follow-up protocol for Gaucher Disease remains a challenge. Evaluating the latest research on Gaucher Disease concerning clinically relevant data and novel genetic diagnostic tools will ...
Ayla Gerk Rangel, Federico Fernandez Zelcer, Letícia Nunes Campos, Laura Chavez, Marcos Miretti, Joaquin Caceres, Delfina Mendiola, Jorgelina Stegmann, Roberto Lauretta, SPINE Online | RDCom   +9 more
core   +2 more sources

An Overview of Gaucher Disease. [PDF]

Diagnostics (Basel)
Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene.
Méndez-Cobián DA, Guzmán-Silahua S, García-Hernández D, Conde-Sánchez J, Castañeda-Borrayo Y, Duey KL, Zavala-Cerna MG, Rubio-Jurado B, Nava-Zavala AH.   +8 more
europepmc   +2 more sources

Modular Molecular Design and Self‐Assembled Nanostructures of Saccharide‑Appended Cyclic Dipeptides for Glycosidase‑Responsive Supramolecular Hydrogels

Small, EarlyView.
Saccharide‐appended cyclic dipeptides are designed and developed as building blocks for glycosidase‐responsive supramolecular hydrogels. Their aqueous self‐assembly enables β‐galactosidase‐triggered gel‐to‐sol and neuraminidase‐triggered sol‐to‐gel transition systems, highlighting their potential as glycosidase‐responsive soft materials for biomedical ...
Shintaro Sugiura, Ryuta Tanaka, Sayuri L. Higashi, Aya Shibata, Koichiro M. Hirosawa, Kenichi G. N. Suzuki, Masato Ikeda   +6 more
wiley   +1 more source

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

Haematologica, 2008
Background Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy.
Maja Di Rocco, Fiorina Giona, Francesca Carubbi, Silvia Linari, Fabrizio Minichilli, Roscoe O. Brady, Giuliano Mariani, Maria Domenica Cappellini   +7 more
doaj   +1 more source

Validity assessment for technical skills and stress management of the HelpMeSee® Manual Small Incision Cataract Surgery module

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess the validity of the HelpMeSee Manual Small Incision Cataract Surgery (MSICS) module as a virtual reality training tool for technical skills and stress management in ophthalmology. Methods This prospective study enrolled 47 volunteer surgeons from five groups: four groups of eye surgeons with increasing experience (novice ...
Lea Dormegny, Marion Schaeffer, Nicole Neumann, Remi Yaïci, Lauriana Solecki, Gauthier Dechriste, Emilia Koestel, David Gaucher, Arnaud Sauer, Van Charles Lansingh, Anne Lejay, Nabil Chakfé, Tristan Bourcier   +12 more
wiley   +1 more source