Results 101 to 110 of about 28,810 (212)
An unusual presentation of neurononopathic gauchers disease. [PDF]
, 2013 A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities.
Chand, Prem +3 more
core +1 more source
ORAL TREATMENT OF HEMOPHILIA [PDF]
, 2007 Disclosed herein is a simple method for the treatment of antigen-deficiency diseases, by orally administering to a subject a therapeutically effective amount of the deficient antigen, wherein the antigen is not present in a liposome.
Alpan, Oral +3 more
core +1 more source
The dipole potential correlates with lipid raft markers in the plasma membrane of living cells [PDF]
, 2019 K
Batta, Gyula +4 more
core +1 more source
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori +19 more
wiley +1 more source
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 +7 more
doaj +1 more source
Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models [PDF]
, 2016 GBA gene mutations are the greatest cause of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which loss of GCase contributes to PD remain unclear.
Beavan, M +5 more
core +1 more source
MedComm, Volume 7, Issue 3, March 2026.Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni +18 more
wiley +1 more source
Pregnancy, Volume 2, Issue 2, March 2026.Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM) +3 more
wiley +1 more source
INDUCTION OF TOLERANCE BY ORAL ADMINISTRATION OF FACTOR VIII AND TREATMENT OF HEMOPHILA [PDF]
, 2011 Disclosed herein is a simple method for the treatment of antigen-deficiency diseases, by orally administering to a Subject a therapeutically effective amount of the deficient anti gen, wherein the antigen is not present in a liposome.
Alpan, Oral +3 more
core +1 more source