Results 71 to 80 of about 32,945 (208)

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, Hatice Serap Sivri   +3 more
core   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

, 2016
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO, ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, VILLANI, GUGLIELMO ROSARIO DOMENI, MELIS, DANIELA, Moccia, A., STRISCIUGLIO, PIETRO, Albano, L., Gallo, G., PARENTI, GIANCARLO   +9 more
core  

CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved

Neurobiology of Disease, 2009
In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

Thymic inborn errors of immunity

Journal of Allergy and Clinical Immunology
The thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala, Francesca, Notarangelo, Luigi D., Lionakis, Michail S.   +2 more
openaire   +3 more sources

Cardiac manifestations of inborn errors of metabolism.

, 2007
Item does not contain fulltextAIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism.
Daphnis, E., Varlamis, G., Ganotakis, E., Michailidou, H., Evangeliou, A., Papadopoulou-Legbelou, K., Hitoglou-Makedou, A., Nicolaidou, P., Vavouranakis, I., Wevers, R.A.   +9 more
core  

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín   +15 more
doaj   +1 more source

Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells

Neurobiology of Disease, 2008
Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

Progress toward improved therapies for inborn errors of metabolism

, 2015
Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches.
GINOCCHIO, virginia maria, BRUNETTI PIERRI, NICOLA   +1 more
core   +1 more source

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances

Cell Death Discovery
Deficiency of adenosine deaminase 2 (DADA2) causes a complex phenotype of autoinflammation and immunodeficiency. Bone marrow failure is often refractory to treatment with tumour necrosis factor-alpha (TNF-alpha) inhibitors and additional treatment ...
Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Giorgia Bucciol, Marco Baggio, Mariia Dzhus, Anneleen Hombrouck, Alexandra Damerau, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, Maarten Jacquemyn, Tilmann Kallinich, Dirk Daelemans, Bart Ghesquière, Patrizia Agostinis, Leen Moens, Isabelle Meyts   +18 more
doaj   +1 more source