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  • Lingua: Inglese

    Editore: Springer Berlin / Heidelberg, 2014

    3642403360 / 9783642403361

    • Rilegato

    Da: Better World Books, Mishawaka, IN, U.S.A.Better World Books

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    Condizione: Usato - Buono

    EUR 10,14

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    Quantità: 1 disponibili

    Condizione: 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.

  • Lingua: Inglese

    Editore: Springer, 2023

    303067729X / 9783030677299

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    Da: Basi6 International, Irving, TX, U.S.A.Basi6 International

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    Condizione: Nuovo

    EUR 161,02

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    Quantità: 1 disponibili

    Condizione: Brand New. New. US edition. Expediting shipping for all USA and Europe orders excluding PO Box. Excellent Customer Service.

  • Lingua: Inglese

    Editore: Springer, 2004

    354042542X / 9783540425427

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    Da: ThriftBooks-Dallas, Dallas, TX, U.S.A.ThriftBooks-Dallas

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    Condizione: Usato - Buono

    EUR 179,94

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    Quantità: 1 disponibili

    Hardcover. Condizione: Good. No Jacket. Pages can have notes/highlighting. Spine may show signs of wear. ~ ThriftBooks: Read More, Spend Less.

  • Lingua: Inglese

    Editore: Springer, 2023

    303067729X / 9783030677299

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    Da: Rheinberg-Buch Andreas Meier eK, Bergisch Gladbach, GermaniaRheinberg-Buch Andreas Meier eK

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    Condizione: Usato - Ottimo

    EUR 181,64

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    Quantità: 1 disponibili

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

  • Lingua: Inglese

    Editore: Springer Nature Switzerland AG, 2026

    3032266890 / 9783032266897

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    Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH

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    Condizione: Nuovo

    EUR 171,19

    EUR 30,50 spedizione 
    Spedito da Germania a U.S.A.

    Quantità: 2 disponibili

    Buch. Condizione: 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.

  • Lingua: Inglese

    Editore: Springer, Berlin|Springer International Publishing|Springer, 2024

    3031588185 / 9783031588181

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    Da: moluna, Greven, Germaniamoluna

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    Condizione: Nuovo

    EUR 153,73

    EUR 48,99 spedizione 
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    Quantità: Più di 20 disponibili

    Condizione: New.

  • Lingua: Inglese

    Editore: Springer, 2024

    3031588185 / 9783031588181

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    Da: Books Puddle, Woodside, NY, U.S.A.Books Puddle

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    Condizione: Nuovo

    EUR 219,07

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    Quantità: 4 disponibili

    Condizione: New. 2nd ed. 2024 edition NO-PA16APR2015-KAP.

  • Lingua: Inglese

    Editore: Springer Verlag, 2005

    354022954X / 9783540229544

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    Da: HPB-Red, Dallas, TX, U.S.A.HPB-Red

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    Condizione: Usato - Buono

    EUR 265,43

    EUR 3,28 spedizione 
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    Quantità: 1 disponibili

    hardcover. Condizione: Good. Connecting readers with great books since 1972! Used textbooks may not include companion materials such as access codes, etc. May have some wear or writing/highlighting. We ship orders daily and Customer Service is our top priority.

  • Lingua: Inglese

    Editore: Springer, 2025

    3031588215 / 9783031588211

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    Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH

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    Condizione: Nuovo

    EUR 255,87

    EUR 38,55 spedizione 
    Spedito da Germania a U.S.A.

    Quantità: 1 disponibili

    Taschenbuch. Condizione: 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.

  • Lingua: Inglese

    Editore: Springer, 2024

    3031588185 / 9783031588181

    • Rilegato

    Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH

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    Condizione: Nuovo

    EUR 255,87

    EUR 39,92 spedizione 
    Spedito da Germania a U.S.A.

    Quantità: 1 disponibili

    Buch. Condizione: 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.

  • Lingua: Inglese

    Editore: Springer, 2022

    3030677265 / 9783030677268

    • Rilegato

    Da: PAPER CAVALIER UK, London, Regno UnitoPAPER CAVALIER UK

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    Condizione: Usato - Come nuovo

    EUR 302,29

    EUR 6,99 spedizione 
    Spedito da Regno Unito a U.S.A.

    Quantità: 1 disponibili

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

  • Altre immagini

    Lingua: Inglese

    Editore: Springer-Verlag Publishing, 2008

    3540766979 / 9783540766971

    • Rilegato

    Da: Salish Sea Books, Bellingham, WA, U.S.A.Salish Sea Books

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    Condizione: Usato - Buono

    EUR 312,66

    EUR 4,36 spedizione 
    Spedito in U.S.A.

    Quantità: 1 disponibili

    Condizione: Good. ** CD is included & still sealed **; Good; Hardcover; Light overall wear to the covers with moderately "bumped" edge-corners; Unblemished textblock edges; There is a light 1" crease to the top right edge-corner of the first half of the book's pages (where that corner had been "bumped"), otherwise the endpapers and all text pages are clean and unmarked; The binding is excellent with a straight spine; This book will be shipped in a sturdy cardboard box with foam padding; Medium-Large Format (Quatro, 9.75" - 10.75" tall); Dark blue covers with title in white lettering; 2008, Springer-Verlag Publishing; 860 pages; "Laboratory Guide to the Methods in Biochemical Genetics," by Beat Thöny, et al.

  • Lingua: Inglese

    Editore: Springer, 2022

    3030677265 / 9783030677268

    • Rilegato

    Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH

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    Condizione: Nuovo

    EUR 346,72

    EUR 64,10 spedizione 
    Spedito da Germania a U.S.A.

    Quantità: 1 disponibili

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

  • Lingua: Inglese

    Editore: SPRINGER (O), 2014

    3642403360 / 9783642403361

    • Rilegato
    • Edizione Internazionale

    Da: UK BOOKS STORE, London, LONDO, Regno UnitoUK BOOKS STORE

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    Condizione: Nuovo

    EUR 425,88

    EUR 11,63 spedizione 
    Spedito da Regno Unito a U.S.A.

    Quantità: 1 disponibili

    Condizione: New. Brand New! Fast Delivery This is an International Edition and ship within 24-48 hours. Deliver by FedEx and Dhl, & Aramex, UPS, & USPS and we do accept APO and PO BOX Addresses. Order can be delivered worldwide within 6-10 days and we do have flat rate for up to 2LB. Extra shipping charges will be requested if the Book weight is more than 5 LB. This Item May be shipped from India, United states & United Kingdom. Depending on your location and availability.

  • Lingua: Inglese

    Editore: De Gruyter, 1990

    3110121999 / 9783110121995

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    Da: moluna, Greven, Germaniamoluna

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    Condizione: Nuovo

    EUR 410,00

    EUR 48,99 spedizione 
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    Quantità: Più di 20 disponibili

    Condizione: New.

  • Lingua: Inglese

    Editore: Springer Verlag 0, 2004

    354042542X / 9783540425427

    • Rilegato

    Da: Mispah books, Redhill, SURRE, Regno UnitoMispah books

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    Condizione: Usato - Come nuovo

    EUR 564,26

    EUR 29,14 spedizione 
    Spedito da Regno Unito a U.S.A.

    Quantità: 1 disponibili

    hardcover. Condizione: Like New. Like New .Ships From Multiple Locations. book.

  • Lingua: Inglese

    Editore: De Gruyter, 1990

    3110121999 / 9783110121995

    • Rilegato

    Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH

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    Condizione: Nuovo

    EUR 539,94

    EUR 49,13 spedizione 
    Spedito da Germania a U.S.A.

    Quantità: 1 disponibili

    Buch. Condizione: Neu. Druck auf Anfrage Neuware - Printed after ordering - No detailed description available for 'Zurich, Switzerland, September 3-8, 1989'.

  • Lingua: Inglese

    Editore: Springer, 2024

    3031588185 / 9783031588181

    • Rilegato
    • Print on Demand

    Da: Brook Bookstore On Demand, Napoli, NA, ItaliaBrook Bookstore On Demand

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    Condizione: Nuovo

    EUR 142,27

    EUR 11,00 spedizione 
    Spedito da Italia a U.S.A.

    Quantità: Più di 20 disponibili

    Condizione: new. Questo è un articolo print on demand.

  • Lingua: Inglese

    Editore: Springer Nature Switzerland AG Aug 2026, 2026

    3032266890 / 9783032266897

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    • Print on Demand

    Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.

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    EUR 171,19

    EUR 23,00 spedizione 
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    Buch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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. 534 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer International Publishing, 2023

    303067729X / 9783030677299

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    • Print on Demand

    Da: moluna, Greven, Germaniamoluna

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    EUR 149,85

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    Condizione: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. About 1200 conditions now featuredOffers step-by-step algorithms for diagnosisProvides age-related pathological valuesIncludes established and experimental therapiesUnique source of reference information with a uniform structu.

  • Lingua: Inglese

    Editore: Springer, Berlin, Springer, 2025

    3031588215 / 9783031588211

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    • Print on Demand

    Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.

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    EUR 181,89

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    Quantità: 2 disponibili

    Taschenbuch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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. 533 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer International Publishing Feb 2023, 2023

    303067729X / 9783030677299

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    • Print on Demand

    Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.

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    Condizione: Nuovo

    EUR 181,89

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    Taschenbuch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware 1600 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer, Springer Nov 2024, 2024

    3031588185 / 9783031588181

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    • Print on Demand

    Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.

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    Condizione: Nuovo

    EUR 181,89

    EUR 23,00 spedizione 
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    Quantità: 2 disponibili

    Buch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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. 552 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer, 2024

    3031588185 / 9783031588181

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    Da: Majestic Books, Hounslow, Regno UnitoMajestic Books

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    Condizione: Nuovo

    EUR 230,44

    EUR 7,58 spedizione 
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    Quantità: 4 disponibili

    Condizione: New. Print on Demand.

  • Lingua: Inglese

    Editore: Springer, 2024

    3031588185 / 9783031588181

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    Da: Biblios, frankfurt am main, HESSE, GermaniaBiblios

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    Condizione: Nuovo

    EUR 232,65

    EUR 9,95 spedizione 
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    Condizione: New. PRINT ON DEMAND.

  • Lingua: Inglese

    Editore: Springer, Springer Feb 2023, 2023

    303067729X / 9783030677299

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    Da: buchversandmimpf2000, Emtmannsberg, BAYE, Germaniabuchversandmimpf2000

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    EUR 181,89

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    Taschenbuch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 1600 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer Nov 2025, 2025

    3031588215 / 9783031588211

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    • Print on Demand

    Da: buchversandmimpf2000, Emtmannsberg, BAYE, Germaniabuchversandmimpf2000

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    EUR 181,89

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    Taschenbuch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware -Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited 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.Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg 552 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer, Springer Nov 2024, 2024

    3031588185 / 9783031588181

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    • Print on Demand

    Da: buchversandmimpf2000, Emtmannsberg, BAYE, Germaniabuchversandmimpf2000

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    Condizione: Nuovo

    EUR 181,89

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    Quantità: 1 disponibili

    Buch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware -Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited 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.Springer-Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg 552 pp. Englisch.

  • Lingua: Inglese

    Editore: Springer International Publishing, 2021

    3030677265 / 9783030677268

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    • Print on Demand

    Da: moluna, Greven, Germaniamoluna

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    EUR 201,17

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    Spedito da Germania a U.S.A.

    Quantità: Più di 20 disponibili

    Condizione: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. About 1200 conditions now featuredOffers step-by-step algorithms for diagnosisProvides age-related pathological valuesIncludes established and experimental therapies Unique source of reference information with a uniform.

  • Lingua: Inglese

    Editore: Springer, Springer International Publishing Feb 2022, 2022

    3030677265 / 9783030677268

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    • Print on Demand

    Da: buchversandmimpf2000, Emtmannsberg, BAYE, Germaniabuchversandmimpf2000

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    EUR 246,09

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    Buch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 1600 pp. Englisch.