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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham
The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham
Loma Linda University Electronic Theses, Dissertations & Projects
Background. Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart.
Methods. Connexin43 DNA from 25 normal subjects and 30 children with a variety of congenital heart diseases was amplified by the polymerase chain reaction and sequenced. Mutant DNA was expressed in cell culture and examined for its effect …
A Growth Study On Phenylketonurics, Emma Johnson Aitken
A Growth Study On Phenylketonurics, Emma Johnson Aitken
Loma Linda University Electronic Theses, Dissertations & Projects
Data from forty-eight medical records of phenylketonuria children under treatment were investigated to determine if growth, as measured by stature, was normal; and to determine if the state of control or the age at beginning of treatment had an effect on growth. Mean intakes of phenylalanine, protein, and calories were obtained on the nutritional data only if the simultaneous serum phenylalanine was equal to or less than 6 milligrams per cent. These means were grouped according to the age of the children into 7 groups (0
The height at beginning of treatment and the last measured height was compared with …