Results 61 to 70 of about 2,490 (187)

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

Impaired gait kinematics in type 1 Gaucher’s Disease

Journal of Parkinson’s Disease, 2016
Type 1 Gaucher’s disease (GD1) is traditionally regarded as “non-neurological”. Spatiotemporal and kinematic analysis of gait was carried on thirteen GD1 patients and thirteen healthy controls.
Pierpaolo Sorrentino, Antonio Barbato, Luigi Del Gaudio, Rosaria Rucco, Pasquale Varriale, Michelina Sibilio, Pasquale Strazzullo, Giuseppe Sorrentino, Valeria Agosti   +8 more
doaj   +1 more source

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

Gaucher's disease in the lipidomics era

, 2012
Human diseases that result directly from alterations in sphingolipid metabolism are generally disorders of the degradation of these compounds. A defect in the lysosomal degradation of glucosylceramide results in the phenotype of Gaucher’s disease, the ...
Fuller, M.
core   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonists and Incident Major Adverse Liver Outcomes in People With Type 2 Diabetes and Metabolic Dysfunction‐Associated Steatotic Liver Disease

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Treatment options for metabolic dysfunction‐associated steatotic liver disease (MASLD) are limited. While glucagon‐like peptide‐1 receptor agonists (GLP‐1 RA) and sodium‐glucose cotransporter‐2 (SGLT‐2) inhibitors improve cardiovascular outcomes, comparative effectiveness on liver‐related outcomes remains unclear.
Gregor A. Maier, Ramon A. Hofmann, Michael Roden, Wolfgang Rathmann, Oliver Kuss   +4 more
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Gaucher’s Disease : A Case Report

, 2023
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be ...
Prisila, Elvina, Majdawati, Ana
core  

Ins and Outs of Cost Effectiveness Analysis of Enzyme Replacement Therapy for Gaucher's Disease [PDF]

, 2017
Gaucher’s syndrome is the distinguished prevailing disorder characterized under the lysosomal repository disorder. Gaucher’s is a example for operation of molecular medication to analytical delineation, treatment and diagnosis.
10.24942/bjpmr.2017.174
core   +1 more source

Doença de Gaucher na gravidez.

Acta Médica Portuguesa, 1997
A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana, L Soares, M C Cardoso, M J Costa, J M Doria, L M Graça   +5 more
doaj   +1 more source