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  • Idioma: Inglés

    Editorial: Springer Berlin / Heidelberg, 2014

    3642403360 / 9783642403361

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    Librería: Better World Books, Mishawaka, IN, Estados Unidos de AmericaBetter World Books

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    Condición: Usado - Aceptable

    EUR 10,14

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    Cantidad disponible: 1 disponibles

    Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2023

    303067729X / 9783030677299

    • Tapa blanda

    Librería: Basi6 International, Irving, TX, Estados Unidos de AmericaBasi6 International

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    Condición: Nuevo

    EUR 161,02

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    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: Springer, 2004

    354042542X / 9783540425427

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    Librería: ThriftBooks-Dallas, Dallas, TX, Estados Unidos de AmericaThriftBooks-Dallas

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    Condición: Usado - Aceptable

    EUR 179,94

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    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: Springer, 2023

    303067729X / 9783030677299

    • Tapa blanda

    Librería: Rheinberg-Buch Andreas Meier eK, Bergisch Gladbach, AlemaniaRheinberg-Buch Andreas Meier eK

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    Condición: Usado - Excelente

    EUR 181,64

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    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: Springer Nature Switzerland AG, 2026

    3032266890 / 9783032266897

    • Tapa dura

    Librería: AHA-BUCH GmbH, Einbeck, AlemaniaAHA-BUCH GmbH

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    Condición: Nuevo

    EUR 171,19

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    Cantidad disponible: 2 disponibles

    Buch. Condición: 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.

  • Idioma: Inglés

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

    3031588185 / 9783031588181

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    Librería: moluna, Greven, Alemaniamoluna

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    Condición: Nuevo

    EUR 153,73

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    Cantidad disponible: Más de 20 disponibles

    Condición: New.

  • Idioma: Inglés

    Editorial: Springer, 2024

    3031588185 / 9783031588181

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    Librería: Books Puddle, Woodside, NY, Estados Unidos de AmericaBooks Puddle

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    Condición: Nuevo

    EUR 219,07

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    Cantidad disponible: 4 disponibles

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

  • Idioma: Inglés

    Editorial: Springer Verlag, 2005

    354022954X / 9783540229544

    • Tapa dura

    Librería: HPB-Red, Dallas, TX, Estados Unidos de AmericaHPB-Red

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    Condición: Usado - Aceptable

    EUR 265,43

    Envío por EUR 3,28 
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    Cantidad disponible: 1 disponibles

    hardcover. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2025

    3031588215 / 9783031588211

    • Tapa blanda

    Librería: AHA-BUCH GmbH, Einbeck, AlemaniaAHA-BUCH GmbH

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    Condición: Nuevo

    EUR 255,87

    Envío por EUR 38,55 
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    Cantidad disponible: 1 disponibles

    Taschenbuch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2024

    3031588185 / 9783031588181

    • Tapa dura

    Librería: AHA-BUCH GmbH, Einbeck, AlemaniaAHA-BUCH GmbH

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    Condición: Nuevo

    EUR 255,87

    Envío por EUR 39,92 
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    Cantidad disponible: 1 disponibles

    Buch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2022

    3030677265 / 9783030677268

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    Librería: PAPER CAVALIER UK, London, Reino UnidoPAPER CAVALIER UK

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    Condición: Usado - Como Nuevo

    EUR 302,29

    Envío por EUR 6,99 
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    Cantidad disponible: 1 disponibles

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

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    Idioma: Inglés

    Editorial: Springer-Verlag Publishing, 2008

    3540766979 / 9783540766971

    • Tapa dura

    Librería: Salish Sea Books, Bellingham, WA, Estados Unidos de AmericaSalish Sea Books

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    Condición: Usado - Aceptable

    EUR 312,66

    Envío por EUR 4,36 
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    Cantidad disponible: 1 disponibles

    Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2022

    3030677265 / 9783030677268

    • Tapa dura

    Librería: AHA-BUCH GmbH, Einbeck, AlemaniaAHA-BUCH GmbH

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    Condición: Nuevo

    EUR 346,72

    Envío por EUR 64,10 
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    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: SPRINGER (O), 2014

    3642403360 / 9783642403361

    • Tapa dura
    • Edición internacional

    Librería: UK BOOKS STORE, London, LONDO, Reino UnidoUK BOOKS STORE

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    Condición: Nuevo

    EUR 425,88

    Envío por EUR 11,63 
    Se envía de Reino Unido a Estados Unidos de America

    Cantidad disponible: 1 disponibles

    Condición: 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.

  • Idioma: Inglés

    Editorial: De Gruyter, 1990

    3110121999 / 9783110121995

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    Librería: moluna, Greven, Alemaniamoluna

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    Condición: Nuevo

    EUR 410,00

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    Cantidad disponible: Más de 20 disponibles

    Condición: New.

  • Idioma: Inglés

    Editorial: Springer Verlag 0, 2004

    354042542X / 9783540425427

    • Tapa dura

    Librería: Mispah books, Redhill, SURRE, Reino UnidoMispah books

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    Condición: Usado - Como Nuevo

    EUR 564,26

    Envío por EUR 29,14 
    Se envía de Reino Unido a Estados Unidos de America

    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: De Gruyter, 1990

    3110121999 / 9783110121995

    • Tapa dura

    Librería: AHA-BUCH GmbH, Einbeck, AlemaniaAHA-BUCH GmbH

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    Condición: Nuevo

    EUR 539,94

    Envío por EUR 49,13 
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    Cantidad disponible: 1 disponibles

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

  • Idioma: Inglés

    Editorial: Springer, 2024

    3031588185 / 9783031588181

    • Tapa dura
    • Impresión bajo demanda

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

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    Condición: Nuevo

    EUR 142,27

    Envío por EUR 11,00 
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    Condición: new. Questo è un articolo print on demand.

  • Idioma: Inglés

    Editorial: Springer Nature Switzerland AG Aug 2026, 2026

    3032266890 / 9783032266897

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    Librería: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, AlemaniaBuchWeltWeit Ludwig Meier e.K.

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    Condición: Nuevo

    EUR 171,19

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    Cantidad disponible: 2 disponibles

    Buch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer International Publishing, 2023

    303067729X / 9783030677299

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    Librería: moluna, Greven, Alemaniamoluna

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    Condición: Nuevo

    EUR 149,85

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    Cantidad disponible: Más de 20 disponibles

    Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, Berlin, Springer, 2025

    3031588215 / 9783031588211

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    Librería: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, AlemaniaBuchWeltWeit Ludwig Meier e.K.

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    Condición: Nuevo

    EUR 181,89

    Envío por EUR 23,00 
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    Cantidad disponible: 2 disponibles

    Taschenbuch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer International Publishing Feb 2023, 2023

    303067729X / 9783030677299

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    Librería: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, AlemaniaBuchWeltWeit Ludwig Meier e.K.

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    Condición: Nuevo

    EUR 181,89

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

  • Idioma: Inglés

    Editorial: Springer, Springer Nov 2024, 2024

    3031588185 / 9783031588181

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    Librería: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, AlemaniaBuchWeltWeit Ludwig Meier e.K.

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    Condición: Nuevo

    EUR 181,89

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    Cantidad disponible: 2 disponibles

    Buch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, 2024

    3031588185 / 9783031588181

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    Librería: Majestic Books, Hounslow, Reino UnidoMajestic Books

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    Condición: Nuevo

    EUR 230,44

    Envío por EUR 7,58 
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    Cantidad disponible: 4 disponibles

    Condición: New. Print on Demand.

  • Idioma: Inglés

    Editorial: Springer, 2024

    3031588185 / 9783031588181

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    Librería: Biblios, frankfurt am main, HESSE, AlemaniaBiblios

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    Condición: Nuevo

    EUR 232,65

    Envío por EUR 9,95 
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    Cantidad disponible: 4 disponibles

    Condición: New. PRINT ON DEMAND.

  • Idioma: Inglés

    Editorial: Springer, Springer Feb 2023, 2023

    303067729X / 9783030677299

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    Librería: buchversandmimpf2000, Emtmannsberg, BAYE, Alemaniabuchversandmimpf2000

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    Condición: Nuevo

    EUR 181,89

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

  • Idioma: Inglés

    Editorial: Springer Nov 2025, 2025

    3031588215 / 9783031588211

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    Librería: buchversandmimpf2000, Emtmannsberg, BAYE, Alemaniabuchversandmimpf2000

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    Condición: Nuevo

    EUR 181,89

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    Taschenbuch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, Springer Nov 2024, 2024

    3031588185 / 9783031588181

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    Librería: buchversandmimpf2000, Emtmannsberg, BAYE, Alemaniabuchversandmimpf2000

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    Condición: Nuevo

    EUR 181,89

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    Cantidad disponible: 1 disponibles

    Buch. Condición: 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.

  • Idioma: Inglés

    Editorial: Springer International Publishing, 2021

    3030677265 / 9783030677268

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    Librería: moluna, Greven, Alemaniamoluna

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    Condición: Nuevo

    EUR 201,17

    Envío por EUR 48,99 
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    Cantidad disponible: Más de 20 disponibles

    Condición: 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.

  • Idioma: Inglés

    Editorial: Springer, Springer International Publishing Feb 2022, 2022

    3030677265 / 9783030677268

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    Librería: buchversandmimpf2000, Emtmannsberg, BAYE, Alemaniabuchversandmimpf2000

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    Condición: Nuevo

    EUR 246,09

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    Cantidad disponible: 1 disponibles

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