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  1. Book ; Online ; E-Book: Atlas of inherited metabolic diseases

    Nyhan, William L. / Hoffmann, Georg F.

    2020  

    Author's details William L. Nyhan, Georg F. Hoffmann
    Keywords Electronic books
    Language English
    Size 1 Online-Ressource (x, 855 Seiten), Illustrationen, Diagramme
    Edition Fourth edition
    Publisher CRC Press, Taylor & Francis Group
    Publishing place Boca Raton
    Publishing country United States
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT020536502
    ISBN 978-1-138-19662-9 ; 9781138196599 ; 1-138-19662-2 ; 1138196592
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book: Vademecum Metabolicum

    Zschocke, Johannes / Hoffmann, Georg F.

    Diagnose und Therapie erblicher Stoffwechselkrankheiten

    2021  

    Author's details Johannes Zschocke, Georg F. Hoffmann Hrsg
    Keywords Enzymmangel ; Erbliche Stoffwechselerkrankungen ; Neugeborenen-Screening ; Notfall ; plötzlicher Kindstod ; Schattauer ; 128 ; Stoffwechselkrankheit ; Angeborene Krankheit
    Subject Congenitale Krankheit ; Kongenitale Krankheit ; Konnatale Krankheit ; Angeborene Krankheiten ; Stoffwechsel ; Stoffwechselerkrankung
    Language German
    Size XIV, 266 Seiten, Illustrationen, 18.5 cm x 12 cm
    Edition 5. Auflage
    Publisher Thieme
    Publishing place Stuttgart
    Publishing country Germany
    Document type Book
    Old title Vorangegangen ist
    HBZ-ID HT021124183
    ISBN 978-3-13-243550-6 ; 3-13-243550-3
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2021 A 1315 available for loan (reading room) Lesesaal EG

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  3. Book: Inherited disorders of biogenic amines: a practical guide

    Blau, Nenad / Hoffmann, Georg F.

    (UNI-MED Science)

    2020  

    Author's details Nenad Blau, Georg F. Hoffmann
    Series title UNI-MED Science
    Keywords Disorders ; encephalopathies ; biogenic amines ; Biogene Amine ; Stoffwechselkrankheit ; Erbkrankheit
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Stoffwechsel ; Stoffwechselerkrankung ; Monoamine
    Subject code 616.39
    Language English
    Size 80 Seiten, Illustrationen, 25 cm, 306 g
    Publisher UNI-MED Verlag
    Publishing place Bremen
    Publishing country Germany
    Document type Book
    HBZ-ID HT020982786
    ISBN 978-3-8374-1595-7 ; 3-8374-1595-3
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2021 A 808 available for loan (reading room) Lesesaal EG

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  4. Book: Vademecum Metabolicum

    Zschocke, Johannes / Hoffmann, Georg F.

    Diagnose und Therapie erblicher Stoffwechselkrankheiten ; mit 40 Tabellen

    2012  

    Author's details Johannes Zschocke ; Georg F. Hoffmann
    Keywords Metabolism, Inborn Errors / diagnosis ; Metabolism, Inborn Errors / therapy ; Pediatrics ; Stoffwechselkrankheit ; Angeborene Krankheit
    Subject Congenitale Krankheit ; Kongenitale Krankheit ; Konnatale Krankheit ; Angeborene Krankheiten ; Stoffwechsel ; Stoffwechselerkrankung
    Language German
    Size X, 174 S. : graph. Darst.
    Edition 4., vollst. überarb. und erw. Aufl.
    Publisher Milupa Metabolics u.a.
    Publishing place Friedrichsdorf
    Publishing country Germany
    Document type Book
    Old title 3. Aufl. u. d. T. Zschocke, Johannes: Vademecum Metabolicum
    HBZ-ID HT017103399
    ISBN 978-3-7945-2815-8 ; 3-7945-2815-8
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2012 A 324 order for loan Magazin

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  5. Article ; Online: Neurometabolic Hereditary Diseases of Adults.

    Hoffmann, Georg F

    Journal of inherited metabolic disease

    2019  

    Abstract: Springer International Publishing AG 2018, ISBN 978-3-319-76148-0, ISBN 978-3-319-76148-0 (ebook) Growing up is a fascinating journey. The book "Neurometabolic Hereditary Diseases of Adults" designed and edited by Dr. Allessandro P. Burlina is an eye ... ...

    Abstract Springer International Publishing AG 2018, ISBN 978-3-319-76148-0, ISBN 978-3-319-76148-0 (ebook) Growing up is a fascinating journey. The book "Neurometabolic Hereditary Diseases of Adults" designed and edited by Dr. Allessandro P. Burlina is an eye opener for an area of metabolic medicine which has slowly progressed, is maturing and most of all very important in clinical significance and number of patients. This article is protected by copyright. All rights reserved.
    Language English
    Publishing date 2019-02-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12074
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1508: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Book ; Online ; E-Book: Inherited metabolic diseases

    Hoffmann, Georg F. / Zschocke, Johannes / Nyhan, William L.

    a clinical approach

    2017  

    Author's details edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan
    Keywords DNA ; Dietary Therapy ; Enzyme Replacement Therapy ; Gene Therapy ; Inborn Errors of Metabolism ; Metabolic Emergencies ; Metabolic Medicine ; Newborn Screening ; Stoffwechselkrankheit ; Erbkrankheit
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Stoffwechsel ; Stoffwechselerkrankung
    Language English
    Size 1 Online-Ressource (xvii, 605 Seiten)
    Edition Second edition
    Publisher Springer
    Publishing place Berlin
    Publishing country Germany
    Document type Book ; Online ; E-Book
    Note Lizenzpflichtig
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT019294740
    ISBN 978-3-662-49410-3 ; 9783662494080 ; 3-662-49410-8 ; 3662494086
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  7. Article ; Online: Vitamin B

    Gramer, Gwendolyn / Hoffmann, Georg F

    Current medical science

    2020  Volume 40, Issue 5, Page(s) 801–809

    Abstract: ... Vitamin ... ...

    Abstract Vitamin B
    MeSH term(s) Adult ; Child ; Dietary Supplements ; Early Diagnosis ; Female ; Global Health ; Humans ; Infant ; Infant, Newborn ; Mothers ; Neonatal Screening/methods ; Pilot Projects ; Pregnancy ; Pregnancy Complications/diagnosis ; Pregnancy Complications/genetics ; Pregnancy Complications/pathology ; Vitamin B 12/genetics ; Vitamin B 12 Deficiency/diagnosis ; Vitamin B 12 Deficiency/genetics ; Vitamin B 12 Deficiency/pathology
    Chemical Substances Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2020-10-29
    Publishing country China
    Document type Journal Article
    ZDB-ID 2931065-9
    ISSN 2523-899X ; 2096-5230
    ISSN (online) 2523-899X
    ISSN 2096-5230
    DOI 10.1007/s11596-020-2260-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book ; Online ; E-Book: Pädiatrie

    Schaub, Jürgen / Schulte, Franz-Josef / Hoffmann, Georg F. / Lentze, Michael J. / Spranger, Jürgen W. / Zepp, Fred / Berner, Reinhard

    Grundlagen und Praxis

    (Springer Reference Medizin)

    2020  

    Author's details Georg F. Hoffmann, Michael J. Lentze, Jürgen Spranger, Fred Zepp, Reinhard Berner Hrsg. ; Begründet von Michael J. Lentze, Jürgen Schuab, Franz-Josef Schulte und Jürgen Spranger
    Series title Springer Reference Medizin
    Keywords Pediatrics ; Kinder ; Kinderkrankheiten ; Kinder- und Jugendheilkunde ; Kinderheilkunde ; Pädiatrisch ; Kinder- und Jugendmedizin
    Language German
    Size 1 Online-Ressource (XLIV, 3211 Seiten), Illustrationen, Diagramme
    Edition 5., vollständig überarbeitete Auflage
    Publisher Springer
    Publishing place Berlin
    Publishing country Germany
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT020838038
    ISBN 978-3-662-60300-0 ; 9783662602997 ; 3-662-60300-4 ; 3662602997
    DOI 10.1007/978-3-662-60300-0
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  9. Article: Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.

    Gramer, Gwendolyn / Hoffmann, Georg F / Hennermann, Julia B

    Molecular genetics and metabolism reports

    2021  Volume 27, Page(s) 100738

    Abstract: Background: In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin ... ...

    Abstract Background: In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin adenine dinucleotide (FAD) as a cofactor. Riboflavin (vitamin B
    Methods: We present the results of two children whose NBS results and subsequent confirmatory testing resulted in a suspected diagnosis of MADD. In parallel in both children vitamin B
    Results: Biochemical profiles normalized rapidly in both children under supplementation with riboflavin. After extensive work-up of both cases including molecular genetic studies there was no indication of MADD. Vitamin B
    Conclusion: The differential diagnosis of maternally caused vitamin B deficiencies should be considered in children with abnormal NBS results for MADD, especially in the presence of normal molecular genetic analysis or in case of associated findings of other maternal vitamin B deficiencies like vitamin B
    Language English
    Publishing date 2021-03-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2021.100738
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.

    Posset, Roland / Zielonka, Matthias / Gleich, Florian / Garbade, Sven F / Hoffmann, Georg F / Kölker, Stefan

    Journal of inherited metabolic disease

    2023  Volume 46, Issue 6, Page(s) 1007–1016

    Abstract: The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more ... ...

    Abstract The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more than 1100 individuals with an overall long-term follow-up of approximately 25 years. However, heterogeneity of the clinical phenotype as well as different diagnostic and therapeutic strategies hamper our understanding on the predictors of phenotypic diversity and the impact of disease-immanent and interventional variables (e.g., diagnostic and therapeutic interventions) on the long-term outcome. A new strategy using combined and comparative data analyses helped overcome this challenge. This review presents the mechanisms and relevant principles that are necessary for the identification of meaningful clinical associations by combining data from different data sources, and serves as a blueprint for future analyses of rare disease registries.
    MeSH term(s) Humans ; Urea Cycle Disorders, Inborn/therapy ; Metabolic Diseases ; Rare Diseases ; Registries ; Phenotype
    Language English
    Publishing date 2023-10-10
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1508: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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