Results 91 to 100 of about 15,263 (240)

Torsion of a wandering spleen in an adolescent with Gaucher disease

The Turkish Journal of Gastroenterology, 2017
A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a ...
Şükrü Güngör, Mehmet Öztürk, Fatma İlknur Varol, Ahmet Sığırcı, Mukadder Ayşe Selimoğlu   +4 more
doaj   +1 more source

Beyond Starch: Towards a Scalable Potato Platform for Molecular Farming

Plant Biotechnology Journal, Volume 24, Issue 7, Page 4619-4639, July 2026.
Re‐engineering potato as a biosafe and host‐optimised platform for plant molecular farming by integrating intrinsic biological traits with targeted engineering strategies. ABSTRACT Thirty‐five years after the first recombinant protein was produced in potato and 30 years after clinical trials of edible vaccines from its tubers, the crop is being ...
Izabela Anna Chincinska, Dorota Sołtys‐Kalina, Audrey Y.‐H. Teh   +2 more
wiley   +1 more source

Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type)

, 2012
How to Cite this Article: Taghdiri MM. Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):12. Pls see PDF.
TAGHDIRI, Mohammad Mehdi
core   +1 more source

Piezoelectric Surface Charge and Dynamic Stimulation Synergize to Promote Cardiac Myoblast Alignment and Maturation

Advanced Healthcare Materials, Volume 15, Issue 22, 12 June 2026.
Surface polarization of PVDF films combined with mechanical stimulation generates piezoelectric electrical cues that modulate cardiomyoblast behaviour. Non‐poled and poled PVDF substrates provide distinct electroactive microenvironments influencing cell adhesion, proliferation, and differentiation.
Rafaela M Meira, Sylvie Ribeiro, Senentxu Lanceros‐Mendez, Clarisse Ribeiro   +3 more
wiley   +1 more source

Optimal therapy in Gaucher disease

, 2010
Ozlem Goker-AlpanLysosomal Diseases Research and Treatment Unit, Center for Clinical Trials, O&O Alpan LLC, Springfield, VA, USAAbstract: Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase, presents with a ...
Ozlem Goker-Alpan
core  

Ethical dilemmas in Gaucher disease [PDF]

, 2017
Thesis (MA)--Stellenbosch University, 2017.ENGLISH ABSTRACT: Gaucher disease (GD) is a rare and chronic, genetic disorder which presents immensely challenging ethical dilemmas for patients and families.
Jordaan, Beatrice
core  

Quantification of glucosylceramide in plasma of Gaucher disease patients

Brazilian Journal of Pharmaceutical Sciences, 2010
Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in ...
Maria Viviane Gomes Muller, André Petry, Luciene Pinheiro Vianna, Ana Carolina Breier, Kristiane Michelin-Tirelli, Ricardo Flores Pires, Vera Maria Treis Trindade, Janice Carneiro Coelho   +7 more
doaj   +1 more source

Pancytopenia With Hypocellular Bone Marrow Revealing Extrahepatic Portal Venous Obstruction and Cavernous Transformation in a Child: A Case Report of a Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Extrahepatic portal venous obstruction (EHPVO) is a leading cause of prehepatic portal hypertension in children, particularly in developing countries. While upper gastrointestinal bleeding is the most common presentation, EHPVO may rarely manifest predominantly with hematological abnormalities due to hypersplenism, posing a diagnostic ...
Swekchha Adhikari, Aakash Pandit, Melisha Koirala, Biplav Lamichhane, Ram Khadka, Aashish Panta, Shuvra Rimal   +6 more
wiley   +1 more source

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

Orphanet Journal of Rare Diseases
Background Gaucher disease (GD) is a lysosomal disease caused by mutations in the GBA1 gene, leading to glucosylceramide and glucosylsphingosine accumulation.
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, Aimée Donald, Simona D’Amore, Kathy Page, Chong Yew Tan, Danielle te Vruchte, Andrea Sturchio, Panagiota Tsitsi, Ellen Hertz, Mattias Andréasson, Ioanna Markaki, Per Svenningsson, Timothy M. Cox, Frances M. Platt, the MRC GAUCHERITE Consortium   +16 more
doaj   +1 more source

A Hematologic Masquerader: Progressive Familial Intrahepatic Cholestasis Type 3 Presenting as Anemia, Hepatosplenomegaly, and Recurrent Bleeding in a Child

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Progressive familial intrahepatic cholestasis type 3 (PFIC‐3), caused by pathogenic variants in the ABCB4 gene, is a rare inherited cholestatic liver disorder that often presents later in childhood. In some patients, hematologic manifestations may dominate the clinical picture and delay recognition of the underlying liver disease.
Njood Alwadei
wiley   +1 more source