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Article
Evaluation of a novel dog animal model for peri-implant disease: clinical, radiographic, microbiological and histological assessment
To assess longitudinal peri-implant tissue evaluation in a plaque compromised ligature free dog model, clinically, radiographically, microbiologically and histologically.
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Article
Open AccessPrevalence and characteristics of Epstein–Barr virus-associated gastric carcinomas in Portugal
Gastric cancer (GC) is one of the most common malignant tumors of the digestive tract and is the third leading cause of cancer death worldwide. Epstein–Barr virus (EBV) has been associated with approximately 1...
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Protocol
PCR in the Analysis of Clinical Samples: Prenatal and Postnatal Diagnosis of Inborn Errors of Metabolism
Inborn errors of metabolism (IEMs) are individually rare but collectively common. As more and more genes are cloned and specific disease-causing mutations are identified, the diagnosis of IEMs is becoming incr...
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Article
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance
Cystathionine-β-synthase (CBS) deficiency is the main cause of homocystinuria. Homocysteine (Hcy), methionine, and other metabolites of Hcy accumulate in the body of affected patients. Despite the fact that th...
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Chapter
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula
Homocystinuria due to cystathionine β-synthase deficiency or “classical homocystinuria” is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine ...
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Article
Open AccessSyndromes associated with mitochondrial DNA depletion
Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy producti...
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Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of ox...
