Phenylketonuria and BH4 Deficiencies - 5 Angebote vergleichen
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Phenylketonuria and BH4 Deficiencies (2010)
DE NW
ISBN: 9783837412383 bzw. 3837412385, in Deutsch, neu.
Von Händler/Antiquariat, AHA-BUCH GmbH [51283250], Kreiensen, NDS, Germany.
- Thanks to newborn screening and early dietary therapy, individuals with PKU no longer experience intellectual disability (mental retardation). Nevertheless, many do not achieve their full potential. The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder. Two new approaches are currently available for the treatment of PKU in some patients: - The use of tetrahydrobiopterin (BH4; sapropterin) in individuals with PKU with certain mutations of the phenylalanine hydroxylase gene. - Supplementation with large neutral amino acids (LNAA) other than phenylalanine. Further approaches, such as recombinant phenylalanine ammonia lyase (PAL), which degrades phenylalanine, and gene therapy, using viral or non-viral vectors to correct murine PKU, are at the experimental stage. In this textbook past, present, and future efforts related to PKU and BH4 deficiencies are discussed. The reviews and scientific contributions in this book provide professionals, the patients and their families to understand PKU within a biochemical, neurological and psychosocial context. 79 pp. Englisch.
- Thanks to newborn screening and early dietary therapy, individuals with PKU no longer experience intellectual disability (mental retardation). Nevertheless, many do not achieve their full potential. The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder. Two new approaches are currently available for the treatment of PKU in some patients: - The use of tetrahydrobiopterin (BH4; sapropterin) in individuals with PKU with certain mutations of the phenylalanine hydroxylase gene. - Supplementation with large neutral amino acids (LNAA) other than phenylalanine. Further approaches, such as recombinant phenylalanine ammonia lyase (PAL), which degrades phenylalanine, and gene therapy, using viral or non-viral vectors to correct murine PKU, are at the experimental stage. In this textbook past, present, and future efforts related to PKU and BH4 deficiencies are discussed. The reviews and scientific contributions in this book provide professionals, the patients and their families to understand PKU within a biochemical, neurological and psychosocial context. 79 pp. Englisch.
2
Phenylketonuria and BH4 Deficiencies (2010)
EN NW
ISBN: 9783837412383 bzw. 3837412385, in Englisch, 79 Seiten, Uni-Med Verlag Ag, neu.
Lieferung aus: Frankreich, Expédition sous 1 à 2 jours ouvrés.
Von Händler/Antiquariat, livres_allemands.
Relié, Label: Uni-Med Verlag Ag, Uni-Med Verlag Ag, Produktgruppe: Book, Publiziert: 2010-08, Studio: Uni-Med Verlag Ag.
Von Händler/Antiquariat, livres_allemands.
Relié, Label: Uni-Med Verlag Ag, Uni-Med Verlag Ag, Produktgruppe: Book, Publiziert: 2010-08, Studio: Uni-Med Verlag Ag.
3
Phenylketonuria and BH4 Deficiencies (2010)
EN HC NW FE
ISBN: 9783837412383 bzw. 3837412385, in Englisch, 79 Seiten, Uni-Med, Bremen, gebundenes Buch, neu, Erstausgabe.
Lieferung aus: Deutschland, Versandfertig in 1 - 2 Werktagen.
Von Händler/Antiquariat, che-chandler.
Die Beschreibung dieses Angebotes ist von geringer Qualität oder in einer Fremdsprache. Trotzdem anzeigen
Von Händler/Antiquariat, che-chandler.
Die Beschreibung dieses Angebotes ist von geringer Qualität oder in einer Fremdsprache. Trotzdem anzeigen
4
Phenylketonuria and BH4 Deficiencies (2010)
EN HC US FE
ISBN: 9783837412383 bzw. 3837412385, in Englisch, 79 Seiten, Uni-Med, Bremen, gebundenes Buch, gebraucht, Erstausgabe.
Lieferung aus: Deutschland, Versandfertig in 1 - 2 Werktagen.
Von Händler/Antiquariat, buchgarten24.
Die Beschreibung dieses Angebotes ist von geringer Qualität oder in einer Fremdsprache. Trotzdem anzeigen
Von Händler/Antiquariat, buchgarten24.
Die Beschreibung dieses Angebotes ist von geringer Qualität oder in einer Fremdsprache. Trotzdem anzeigen
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