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Taschenbuch. Zustand: Sehr gut. Gebraucht - Sehr gut Leichte Lagerspuren 1565 pp. Englisch.

Zustand: New.

Zustand: New.

Zustand: New.

Hardcover. Zustand: Brand New. 555 pages. 9.69x1.26x6.38 inches. In Stock.

Zustand: Used. pp. xviii + 416.

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Phenylketonuria (PKU) is the most frequent inborn error of the amino acid metabolism (prevalence about 1:10,000 newborns). These autosomal-recessive inherited variants lead to deficiency in the PAH enzyme which hydroxylates phenylalanine to tyrosine, with the help of a cofactor (tetrahydrobiopterin; BH4), molecular oxygen, and non-heme iron. The metabolic picture is highly heterogenous as it depends on the degree of residual PAH activity and blood phenylalanine (Phe) concentrations. Untreated PKU generally results in global developmental delay or severe irreversible intellectual disability, as well as growth failure, hypopigmentation, motor deficits, ataxia, and seizures. The population of PKU-affected individuals is heterogeneous in terms of treatment history and diet compliance. Early diagnosis and treatment with a low-Phe diet has enabled an almost normal life for the majority of PKU subject. Pharmacological treatment with BH4 (sapropterin) and enzyme substitution therapy with Phe ammonia lyase (PAL) provide alternative treatment options for some PKU subjects. Several gene therapy trials are on the way.The book includes the latest advancements in the pathophysiology of PKU, which is still not fully understood, as well as its management with new therapeutic options.…

Zustand: New.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis ofinherited metabolic diseases.The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical methods that depend on technologies that very few are currently employing in their labs, but are certainly the functional techniques in a biochemical laboratory in this post-genomics era. Each chapter is sufficiently detailed to be self-contained, thus enabling laboratory specialists to adopt the method in their own laboratory and obviating the need for additional methods or references.The second updated edition of the book is unique in that it is the first of its kind to be published in the last 13 years, and individual chapters have been developed by experts in the field citing both established and cutting-edge (omics) technology. Thus, it is an indispensable resource for researchers and clinicians working on the field of inherited metabolic diseases and those interested in laboratory diagnoses.…

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis ofinherited metabolic diseases.The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical methods that depend on technologies that very few are currently employing in their labs, but are certainly the functional techniques in a biochemical laboratory in this post-genomics era. Each chapter is sufficiently detailed to be self-contained, thus enabling laboratory specialists to adopt the method in their own laboratory and obviating the need for additional methods or references.The second updated edition of the book is unique in that it is the first of its kind to be published in the last 13 years, and individual chapters have been developed by experts in the field citing both established and cutting-edge (omics) technology. Thus, it is an indispensable resource for researchers and clinicians working on the field of inherited metabolic diseases and those interested in laboratory diagnoses.…

Hardback. Zustand: New. Phenylketonuria (PKU)  is the most frequent inborn error of the amino acid metabolism (prevalence about 1:10,000 newborns). These autosomal-recessive inherited variants lead to deficiency in the PAH enzyme which hydroxylates phenylalanine to tyrosine, with the help of a cofactor (tetrahydrobiopterin; BH4), molecular oxygen, and non-heme iron. The metabolic picture is highly heterogenous as it depends on the degree of residual PAH activity and blood phenylalanine (Phe) concentrations. Untreated PKU generally results in global developmental delay or severe irreversible intellectual disability, as well as growth failure, hypopigmentation, motor deficits, ataxia, and seizures. The population of PKU-affected individuals is heterogeneous in terms of treatment history and diet compliance. Early diagnosis and treatment with a low-Phe diet has enabled an almost normal life for the majority of PKU subject. Pharmacological treatment with BH4 (sapropterin) and enzyme substitution therapy with Phe ammonia lyase (PAL) provide alternative treatment options for some PKU subjects. Several gene therapy trials are on the way.The book includes the latest advancements in the pathophysiology of PKU, which is still not fully understood, as well as its management with new therapeutic options.…

Zustand: as new. Appears unread. May have a retail sticker on back cover or remainder mark on the text block.

HRD. Zustand: New. New Book. Shipped from UK. Established seller since 2000.

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering.

Zustand: New.

Zustand: New.

Zustand: Good. Pages intact with minimal writing/highlighting. The binding may be loose and creased. Dust jackets/supplements are not included. Stock photo provided. Product includes identifying sticker. Better World Books: Buy Books. Do Good.

Zustand: As New. Unread book in perfect condition.

Buch. Zustand: Neu. Neuware -No detailed description available for 'Zurich, Switzerland, September 3-8, 1989'.

Hardcover. Zustand: Brand New. 1376 pages. 6.89x3.35x9.69 inches. In Stock.

Buch. Zustand: Neu. Neuware - No detailed description available for 'Zurich, Switzerland, September 3-8, 1989'.

Gebundene Ausgabe. Zustand: Neu. No detailed description available for "Zurich, Switzerland, September 3-8, 1989". Sprache: Englisch Gewicht in Gramm: 2546.

Buch. Zustand: Neu. Neuware -No detailed description available for 'Zurich, Switzerland, September 3-8, 1989'. 1380 pp. Englisch.