Carlos R.F. Pinto

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Glycogen storage disease type Ia (GSD-Ia) profoundly impairs glucose release by the liver due to glucose-6-phosphatase (G6Pase) deficiency. An adeno-associated virus (AAV) containing a small human G6Pase transgene was pseudotyped with AAV8 (AAV2/8) to optimize liver tropism. Survival was prolonged in 2-week-old G6Pase (-/-) mice by 600-fold fewer AAV2/8(More)
There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data(More)
Screening large numbers of target regions in multiple DNA samples for sequence variation is an important application of next-generation sequencing but an efficient method to enrich the samples in parallel has yet to be reported. We describe an advanced method that combines DNA samples using indexes or barcodes prior to target enrichment to facilitate this(More)
Scientists first described inborn errors of metabolism, also termed inherited disorders of metabolism, early in the 20th century and since then have determined the biochemical and genetic bases of a great number of these disorders both in humans and in an increasing number of companion animals. The availability of metabolic screening tests has advanced the(More)
Scientists fi rst described inborn errors of metabolism, also termed inherited disorders of metabolism, early in the 20th century and since then have determined the biochemical and genetic bases of a great number of these disorders both in humans and in an increasing number of companion animals. The availability of metabolic screening tests has advanced the(More)
The administration of hormones to mares during breeding management is an essential tool for equine practitioners. Proper and timely administration of specific hormones to broodmares may be targeted to prevent reproductive disorders, to serve as an aid to treating reproductive disorders or hormonal imbalances, and to optimize reproductive efficiency, for(More)
This manuscript aims to review the current knowledge in the field of surgical ablation of atrial fibrillation (AF), including a brief discussion regarding the standard Maze procedure, its variants, minimally invasive thoracoscopic procedures and hybrid treatments, which briefly summarizes the advantages and differences between each technique. The rationale(More)
Glycogen storage disease type Ia (GSD-Ia) is the inherited deficiency of glucose-6-phosphatase (G6Pase), primarily found in liver and kidney, which causes life-threatening hypoglycemia. Dogs with GSD-Ia were treated with double-stranded adeno-associated virus (AAV) vectors encoding human G6Pase. Administration of an AAV9 pseudotyped (AAV2/9) vector to seven(More)
As of 2979, data gathered by the Chagas’ Disease Control Program (CDCP) in the Brazilian state of Minus Gerais indicated that Triatoma infestans was the Chagas’ disease vector most commonly found in and around human dwellings. A decade later, however, this picture had changed, presumably as a result of control efforts; few specimens of T. infestans were(More)