Results 61 to 70 of about 35,641 (262)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The Role of Ceruloplasmin in Neurodegeneration in Parkinson’s Disease

Türk Nöroloji Dergisi, 2016
Objective: Oxidative stress has been implicated to play a major role in the neuronal cell death in idiopathic Parkinson’s disease (IPD). Ceruloplasmin is a ferroxidase that oxidizes toxic ferrous iron to its nontoxic ferric form and thus helps prevent ...
Reyhan Gürer, Şenay Aydın, Dilvin Gökçe   +2 more
doaj   +1 more source

Ceruloplasmin in human malignancies. [PDF]

Acta medica Okayama, 1984
The ceruloplasmin concentration was determined in 145 cancer patients prior to and after treatment with different radiotherapeutic and chemotherapeutic regimes. The ceruloplasmin concentration was observed to be higher in patients with malignancies than in healthy controls.
Chakraborty, Prabir Kishore, Ghosh, Aparesh, Chowdhury, J Roy   +2 more
openaire   +3 more sources

Porto‐sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report

JPGN Reports, EarlyView.
Abstract Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases.
Melissa Castro, Christian Martinez, Carole Brathwaite, Reuven Bromberg, Ana M. Rodriguez, Erick Hernandez   +5 more
wiley   +1 more source

A case of autoimmune hepatitis in a patient with inflammatory bowel disease and significant lymphadenopathy in the porta hepatis

JPGN Reports, EarlyView.
Abstract The diagnosis of autoimmune hepatitis (AIH) is supported by the presence of elevated transaminases, hypergammaglobulinemia, liver biopsy consistent with AIH, and the presence of AIH autoantibodies. In this case presentation, we highlight the challenges associated with diagnosing AIH in a patient with inflammatory bowel disease (IBD) who ...
Benjamin J. Malamet, Shannon Joerger, Karen Caudill, Mai He, Juan Reyes Genere, Janis Stoll   +5 more
wiley   +1 more source

Biochemical Evaluation of Withania Somnifera Root Powder on Adjuvant-Induced Arthritis in Rats [PDF]

, 2015
The present investigation was carried out to evaluate the biochemical effect of Withania somnifera Linn. Solanaceae, commonly known as ashwagandha on adjuvant induced arthritic rats.
Rasool, M. (Mahaboobkhan), Varalakshmi, P. (Palaninathan)   +1 more
core  

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum [PDF]

, 2003
Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of ...
Dheyyat, M., Din, A., Hampshire, D., Jamil, A., Kurdi, A., Mubaidin, A., Mubaidin, M., Roberts, E., Shurbaji, A., Woods, C.G.   +9 more
core   +2 more sources

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass Spectrometry Reviews, EarlyView.
Abstract Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

TRAIL and Ceruloplasmin Inverse Correlation as a Representative Crosstalk between Inflammation and Oxidative Stress

Mediators of Inflammation, 2018
Objective. “Oxinflammation” is a recently coined term that defines the deleterious crosstalk between inflammatory and redox systemic processes, which underlie several diseases.
Veronica Tisato, Stefania Gallo, Elisabetta Melloni, Claudio Celeghini, Angelina Passaro, Giorgio Zauli, Paola Secchiero, Carlo Bergamini, Alessandro Trentini, Gloria Bonaccorsi, Giuseppe Valacchi, Giovanni Zuliani, Carlo Cervellati   +12 more
doaj   +1 more source

Update on Genetic Chorea. [PDF]

Eur J Neurol
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +2 more sources