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  • 1
    UID:
    b3kat_BV039809043
    Format: 1 Online-Ressource (XXVI, 860 S.)
    Edition: Online-Ausgabe Springer ebook collection. Medicine 2005-2008
    ISBN: 9783540766971
    Additional Edition: Reproduktion von Laboratory guide to the methods in biochemical genetics 2008
    Language: English
    Subjects: Biology
    RVK:
    Keywords: Molekulargenetik ; Labormedizin ; Stoffwechselkrankheit ; Angeborene Krankheit ; Labormedizin ; Aufsatzsammlung ; Aufsatzsammlung
    URL: Volltext  (lizenzpflichtig)
    Author information: Blau, Nenad 1946-
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  • 2
    UID:
    b3kat_BV022382717
    Format: 1 Online-Ressource
    Edition: Online-Ausgabe Springer ebook collection. Medicine 2005-2008
    ISBN: 354022954X , 9783540229544 , 9783540289623
    Additional Edition: Reproduktion von Physician's guide to the treatment and follow-up of metabolic diseases 2006
    Language: English
    Subjects: Medicine
    RVK:
    Keywords: Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Aufsatzsammlung
    Author information: Blau, Nenad 1946-
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  • 3
    UID:
    gbv_1646604849
    Format: Online-Ressource (XVIII, 416p. 13 illus, digital)
    ISBN: 9783540289623
    Series Statement: SpringerLink
    Content: This clinical reference provides concise information on the treatment and management of inherited metabolic diseases. World experts cover all commonalities of therapy giving practical advice and guidance. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables and figures allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
    Note: Companion v. of: The physician's guide to the laboratory diagnosis of metabolic disease , Includes bibliographical references and indexes , Emergency Management of Metabolic Diseases; The Role of Communication in the Treatment of Inborn Metabolic Diseases; Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism; Disorders of Neurotransmission; Disorders of GABA, Glycine, Serine, and Proline; Disorders of Tyrosine Degradation; Disorders of Histidine Metabolism; Disorders of Leucine Metabolism; Disorders of Valine-Isoleucine Metabolism; Various Organic Acidurias; Disorders of the .-Glutamyl Cycle; Disorders of Sulfur Amino Acid Metabolism; Inherited Hyperammonaemias; Disorders of Ornithine, Lysine, and Tryptophan , Defective Transcellular Transport of Amino AcidsDisorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism; Disorders of Carbohydrate and Glycogen Metabolism; Disorders of Glucose Transport; Disorders of Glycerol Metabolism; The Mucopolysaccharidoses; Oligosaccharidoses and Related Disorders; Congenital Disorders of Glycosylation; Cystinosis; Other Storage Disorders; Inborn Errors of Purine and Pyrimidine Metabolism; Disorders of Creatine Metabolism; Peroxisomal Disorders; Hyperoxaluria; Mitochondrial Energy Metabolism; Genetic Dyslipoproteinemias , Disorders of Steroid Synthesis and MetabolismInborn Errors of Cholesterol Biosynthesis; The Porphyrias; Disorders of Bile Acid Synthesis; Disorders of Copper, Zinc, and Iron Metabolism; Leukotrienes; Hyperinsulinism of Infancy; Other Metabolic Disorders
    Additional Edition: ISBN 9783540229544
    Additional Edition: Buchausg. u.d.T. Physician's guide to the treatment and follow-up of metabolic diseases Berlin : Springer, 2006 ISBN 354022954X
    Additional Edition: ISBN 9783540229544
    Language: English
    Subjects: Medicine
    RVK:
    Keywords: Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Aufsatzsammlung ; CD-ROM
    URL: Volltext  (lizenzpflichtig)
    URL: Cover
    Author information: Blau, Nenad 1946-
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  • 4
    UID:
    b3kat_BV047875976
    Format: 1 Online-Ressource (XXXI, 1534 p. 285 illus., 157 illus. in color)
    Edition: 2nd ed. 2022
    ISBN: 9783030677275
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-030-67726-8
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-030-67728-2
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-030-67729-9
    Language: English
    URL: Volltext  (URL des Erstveröffentlichers)
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  • 5
    UID:
    b3kat_BV024873920
    Format: I, 47 S. , Ill.
    Note: Gekürzte Fassung , Zürich, Univ., Diss., 1984
    Language: German
    Keywords: Hochschulschrift
    Author information: Blau, Nenad 1946-
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  • 6
    UID:
    b3kat_BV046054821
    Format: 867 Seiten
    ISBN: 9783662506882
    Additional Edition: Erscheint auch als Online-Ausgabe ISBN 978-3-642-40337-8
    Language: English
    Keywords: Stoffwechselkrankheit ; Aufsatzsammlung
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  • 7
    UID:
    kobvindex_ZLB15788328
    Format: XLV, 867 Seiten , Ill., graph. Darst. , 279 mm x 210 mm
    ISBN: 9783642403361 , 3642403360
    Language: English
    Keywords: Stoffwechselkrankheit ; Aufsatzsammlung ; Aufsatzsammlung ; Aufsatzsammlung
    Author information: Blau, Nenad
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  • 8
    UID:
    kobvindex_ZLB13972469
    Format: XVIII, 415 Seiten , graph. Darst. , 1 CD-ROM
    Edition: 1. Ed.
    ISBN: 9783540229544 , 354022954X
    Note: Literaturangaben , Systemvoraussetzungen der CD-ROM-Beil. für Windows: Intel Pentium processor; 64 MB of RAM, 60 MB of available hard disk space;Microsoft Windows 98 SE, Windows Millenium Edition, Windows NT 4.0 wit , Systemvoraussetzungen der CD-ROM-Beil. für Macintosh: PowerPC processor; 64 MB RAM, 60 MB of available hard disk space;Mac OS X
    Language: English
    Keywords: Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Aufsatzsammlung ; Stoffwechselkrankheit ; Angeborene Krankheit ; Therapie ; Aufsatzsammlung ; CD-ROM ; Aufsatzsammlung ; CD-ROM ; Aufsatzsammlung
    Author information: Blau, Nenad
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  • 9
    UID:
    gbv_748933077
    Format: Online-Ressource (XXXVII, 716 p) , digital
    Edition: Second Edition
    Edition: Springer eBook Collection. Biomedical and Life Sciences
    ISBN: 9783642558788
    Content: Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function
    Additional Edition: ISBN 9783642627095
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 9783540425427
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 9783642627095
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 9783642558795
    Language: English
    URL: Volltext  (lizenzpflichtig)
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  • 10
    UID:
    b3kat_BV027061718
    Format: XXVI, 860 S. , Ill., graph. Darst.
    Edition: 1. ed.
    In: Buch
    Language: English
    Author information: Blau, Nenad 1946-
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