pahdb.mcgill.ca
PAH : Phenylalanine Hydroxylase Locus Knowledgebase web sitePAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
http://pahdb.mcgill.ca/
PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
http://pahdb.mcgill.ca/
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PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site | pahdb.mcgill.ca Reviews
https://pahdb.mcgill.ca
PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
GePharm | Yararlı Kaynaklar
http://gepharm.com.tr/Treatments/UsefulLinks
Aşağıda Fenilketonüri ile ilgili yararlı olabilecek kaynaklar belirtilmiştir. METVAK: Fenilketonüri ve Diğer Metabolik Hastalıklı Çocuklar Vakfı. European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU). The Knowledgebase of Phenylalanine Hydroxylase and Other Kinds of Mutations. The European Society for Clinical Nutrition and Metabolism. Society for the Study of Inborn Errors of Metabolism (SSIEM). News and Information About Phenylketonuria. Tel: (216) 693 12 02.
Other PKU websites and resources
http://pkuadults.tripod.com/id2.html
Other PKU websites and resources. Other PKU websites and resources. On this page I have included a list of links to other web sites that provide information useful to adults with PKU who have been or are still off diet. A message board and chat facility for teens and adults with PKU. The National PKU News. National Coalition for PKU and Allied Disorders. PAHdb - McGill University's database providing up-to-date information about mutations at the phenylalanine hydroxylase locus.
Ärftlighet
http://pekou.se/om%20pku/ärftlighet.html
Allmänt om PKU och ärftlighet. Vissa anlag är dominanta och andra är recessiva. En viss egenskap kan alltså ärvas med antingen dominant eller recessiv arvsgång. Är arvsgången dominant krävs det bara att man ärvt anlaget (genen) från en av sina föräldrar, medan man vid recessiv arvsgång måste ärva anlaget från båda sina föräldrar för att egenskapen ska komma till uttryck. PKU är en sk. Responsive", dvs att behandling med BH. Kan ge lägre fenylalaninhalter, se vidare.
Fenilchetonuria o PKU [PKUInfo]
http://www.pkuinfo.it/fenilchetonuria
Se trovi interessante PKUinfo. Puoi pubblicizzarlo sul tuo sito, blog, forum, ecc., utilizzando uno dei banner già disponibili. Puoi supportarlo con una donazione. O acquistando alcuni simpatici prodotti. Come t-shirts o altro) o puoi collaborare. E' online il nuovo sito Metaboliconnect, scoprilo subito: potrai trovare spiegazioni e tanti consigli sulla fenilchetonuria. Indica la presenza di alti tassi di fenilalanina. Una Malattia Metabolica Ereditaria. Senza un trattamento nutrizionale appropriato.
PhenCode: Example of adding a new data source
http://phencode.bx.psu.edu/examples/exampleSrc/page1.html
PhenCode: Example of adding a new data source. This example demonstrates the steps involved in adding a new data source to the Locus Variants track. Each database has its own unique traits, so the exact steps and challenges met along the way will vary. This example is based on data that already uses HGVS mutation nomenclature. Which makes the task much easier. Lack of an HGVS name is not a show stopper, but does increase the amount of custom coding that must be done to prepare the data for loading.
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PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
Welcome to the PAH db. World Wide Web site. Mutations in the phenylalanine hydroxylase ( PAH. Gene, the majority of which result in deficient enzyme activity and cause hyperphenylalaninemia, occur in all 13 exons of the gene and flanking sequence. Some cause phenylketonuria, others cause non-PKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant chromosomes. Some PAH. Information about the PAH. Gene, while providing fast and easy access for users. Sea...
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Providing Access to Healthcare for the Deaf. Skip to primary content. PAH, Inc. also known as Providing Access to Healthcare for the Deaf Community is a 501c3 non-profit. PAH works to empower Deaf, Hard of Hearing and Deaf-Blind people to learn about available services, improve their health and advocate for their rights under the Americans with Disabilities Act. Services are currently offered to individuals that live in Prince William County, Virginia. Proudly powered by WordPress.
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