Transcript of Seminario 3a: Aciduria Arginosuccinica. Autores del artículo: “A mouse model of argininosuccinic aciduria: biochemical. sangre seca en papel de filtro Argininemia — Arginina Citrulinemia Citrulina Aciduria Arginosuccinica Citrulina Homocistinuria — Metionina Hipermetioninemia. Aciduria argininosuccínica Deficiencia de argininosuccinato liasa Deficiencia de ASL (por sus siglas en inglés) ASA Deficiencia de succinato arginino.
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This analysis includes all diseases currently carried in the newborns in the United States and Europe. Preventing conditions that can cause serious illness, intellectual disability and even death.
BabyGenes – Southgenetics
Early diagnosis plays a key role in the evolution of these diseases. Early medical treatment can allow your child to have a normal life, or minimize the consequences of the disease.
This technology makes it possible to analyze 92 genes associated with arginosuccinicq disease from a single acisuria of blood obtained at the time of birth. These disorders if are identified and treated early, allow the healthy development of your baby or a better quality of life. The diseases included in this analysis can be classified into the following groups:.
The analysis is done from a few drops of blood taken from the umbilical cord at birth or later through a heelstick. The test is safe and presents no risk to your arginoscucinica.
El tamizaje metabolico en el diagnostico de los errores innatos del metabolismo.
The sample can even take up the first year of life. The results are reported within 10 working days after sampling.
Also they require a confirmatory test. In addition, this analysis identifies whether the child and potentially your family are healthy arginosuccinica of any of these mutations. A healthy carrier is a person who has one mutated gene while the other gene is not affected, so it does not manifest the disease. Knowing the presence of this mutation is a valuable asset because with the proper genetic counseling is possible to prevent occurrence of these diseases in the future new members of the family.
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This study is complementary to screening methods based on metabolites that are made under the National Research Program Newborn. It does not constitute advice or advice regarding any kind of diagnosis, or substitute for consultation with your doctor.
Javier Calvelo adhoc Foto… https: What diseases does this analysis? The diseases included in this analysis can be classified into the following groups: Linked to chemical reactions in the body to create energy and build tissue. Such as cystic fibrosis or congenital Deafness. How is the aciduris different of others?
This information only has an educational purpos. No dude en ponerse en contacto. SouthGenetics – Todos los Derechos Reservados.