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  1. Book ; Online ; E-Book: Inborn metabolic diseases

    Saudubray, Jean-Marie / Baumgartner, Matthias R. / García-Cazorla, Ángeles / Walter, John

    diagnosis and treatment

    2022  

    Author's details Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter editors
    Keywords Electronic books
    Language English
    Size 1 Online-Ressource (xxxix, 894 Seiten), Illustrationen
    Edition Seventh edition
    Publisher Springer
    Publishing place Berlin
    Publishing country Germany
    Document type Book ; Online ; E-Book
    Note Description based on publisher supplied metadata and other sources
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT021406071
    ISBN 978-3-662-63123-2 ; 9783662631225 ; 3-662-63123-7 ; 3662631229
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book ; Online ; E-Book: Inborn metabolic diseases

    Saudubray, Jean-Marie

    Diagnosis and Treatment

    2016  

    Keywords Disorders of metabolism ; Inborn errors of metabolism ; Inherited metabolic diseases ; Metabolic diseases ; Neonatal Screening ; Newborn Screening
    Language English
    Size 658, XXXI S.
    Edition 6. ed.
    Publisher Springer
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book ; Online ; E-Book
    Note Lizenzpflichtig
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT019162320
    ISBN 978-3-662-49771-5 ; 9783662497692 ; 3-662-49771-9 ; 3662497697
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Book: Inborn metabolic diseases

    Saudubray, Jean-Marie / Van den Berghe, Georges / Walter, John H.

    diagnosis and treatment

    2012  

    Author's details Jean-Marie Saudubray ; Georges van den Berghe ; John H. Walter (ed.)
    Keywords Metabolism, Inborn Errors / diagnosis ; Metabolism, Inborn Errors / therapy ; Stoffwechselkrankheit ; Angeborene Krankheit
    Subject Congenitale Krankheit ; Kongenitale Krankheit ; Konnatale Krankheit ; Angeborene Krankheiten ; Stoffwechsel ; Stoffwechselerkrankung
    Language English
    Size XXV, 656 S. : Ill., graph. Darst., 27 cm
    Edition 5. ed.
    Publisher Springer
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT017059586
    ISBN 978-3-642-15719-6 ; 3-642-15719-X
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2011 A 5239 order for loan Magazin

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  4. Article ; Online: The phenotype of adult versus pediatric patients with inborn errors of metabolism.

    Saudubray, Jean-Marie / Mochel, Fanny

    Journal of inherited metabolic disease

    2018  Volume 41, Issue 5, Page(s) 753–756

    Abstract: Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term "inborn," and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of ... ...

    Abstract Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term "inborn," and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms underlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven by various genetic factors. Phenotypic variability may also occur in the context of similar protein expression, which suggests the intervention of environmental, ontogenic, and aging factors.
    MeSH term(s) Adult ; Age Factors ; Child ; Genetic Association Studies ; Humans ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/genetics ; Phenotype
    Language English
    Publishing date 2018-06-06
    Publishing country United States
    Document type Letter
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/s10545-018-0209-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Genetic disorders of cellular trafficking.

    García-Cazorla, Angeles / Oyarzábal, Alfonso / Saudubray, Jean-Marie / Martinelli, Diego / Dionisi-Vici, Carlo

    Trends in genetics : TIG

    2022  Volume 38, Issue 7, Page(s) 724–751

    Abstract: Cellular trafficking is essential to maintain critical biological functions. Mutations in 346 genes, most of them described in the last 5 years, are associated with disorders of cellular trafficking. Whereas initially restricted to membrane trafficking, ... ...

    Abstract Cellular trafficking is essential to maintain critical biological functions. Mutations in 346 genes, most of them described in the last 5 years, are associated with disorders of cellular trafficking. Whereas initially restricted to membrane trafficking, the recent detection of many diseases has contributed to the discovery of new biological pathways. Accordingly, we propose to redesign this rapidly growing group of diseases combining biological mechanisms and clinical presentation into the following categories: (i) membrane trafficking (including organelle-related); (ii) membrane contact sites; (iii) autophagy; (iv) cytoskeleton-related. We present the most recently described pathophysiological findings, disorders and phenotypes. Although all tissues and organs are affected, the nervous system is especially vulnerable.
    MeSH term(s) Autophagy/genetics ; Cytoskeleton/genetics ; Organelles
    Language English
    Publishing date 2022-03-31
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 619240-3
    ISSN 1362-4555 ; 0168-9525 ; 0168-9479
    ISSN (online) 1362-4555
    ISSN 0168-9525 ; 0168-9479
    DOI 10.1016/j.tig.2022.02.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.

    Saudubray, Jean-Marie / Garcia-Cazorla, Angela

    Dialogues in clinical neuroscience

    2019  Volume 20, Issue 4, Page(s) 301–325

    Abstract: Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of ... ...

    Abstract Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of monogenic disease can become an IEM. Clinical features are very diverse and may present as a neurodevelopmental disorder (antenatal or late-onset), as well as an intermittent, a fixed chronic, or a progressive and late-onset neurodegenerative disorder. This also occurs within the same disorder in which a continuum spectrum of severity is frequently observed. In general, the small molecule defects have screening metabolic markers and many are treatable. By contrast only a few complex molecules defects have metabolic markers and most of them are not treatable so far. Recent molecular techniques have considerably contributed in the description of many new diseases and unexpected phenotypes. This paper provides a comprehensive list of IEMs that affect neurodevelopment and may also present with neurodegeneration.
    MeSH term(s) Animals ; Brain/growth & development ; Disease Models, Animal ; Humans ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/physiopathology ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/physiopathology ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/physiopathology ; Neurons/pathology
    Language English
    Publishing date 2019-04-01
    Publishing country France
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2188781-0
    ISSN 1958-5969 ; 1294-8322
    ISSN (online) 1958-5969
    ISSN 1294-8322
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Book ; Online: Inborn Metabolic Diseases

    Fernandes, John / Berghe, Georges / Saudubray, Jean-Marie / Walter, John H.

    Diagnosis and Treatment

    2006  

    Author's details edited by John Fernandes, Jean-Marie Saudubray, Georges Berghe, John H. Walter
    Keywords Endocrinology ; Human genetics ; Neurology ; Pediatrics
    Language English
    Edition Fourth, Revised Edition
    Publisher Springer Medizin Verlag Heidelberg
    Publishing place Berlin, Heidelberg
    Document type Book ; Online
    HBZ-ID TT050387630
    ISBN 978-3-540-28783-4 ; 978-3-540-28785-8 ; 3-540-28783-3 ; 3-540-28785-X
    DOI 10.1007/978-3-540-28785-8
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  8. Article ; Online: Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

    Saudubray, Jean-Marie / Garcia-Cazorla, Àngels

    Pediatric clinics of North America

    2018  Volume 65, Issue 2, Page(s) 179–208

    Abstract: The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This review presents an updated ... ...

    Abstract The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This review presents an updated pathophysiologic classification of inborn errors of metabolism and a method of clinical screening in neonates, late-onset emergencies, neurologic deterioration, and other common clinical scenarios. When and how to investigate a metabolic disorder is presented to encourage physicians to use sophisticated biochemical investigations and not miss a treatable disorder.
    MeSH term(s) Humans ; Infant ; Infant, Newborn ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/physiopathology ; Metabolism, Inborn Errors/therapy ; Neonatal Screening/methods
    Language English
    Publishing date 2018-03-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 215711-1
    ISSN 1557-8240 ; 0031-3955
    ISSN (online) 1557-8240
    ISSN 0031-3955
    DOI 10.1016/j.pcl.2017.11.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

    García-Cazorla, Àngels / Saudubray, Jean-Marie

    Journal of inherited metabolic disease

    2018  Volume 41, Issue 6, Page(s) 1043–1054

    Abstract: It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any ... ...

    Abstract It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any kind of monogenic disease can become an IEM. This new, extended definition includes new categories and mechanisms, and as a general trend will go beyond a single biochemical pathway and/or organelle, and will appear as a connection of multiple crossroads in a system biology approach.From one side, a simplified and updated classification of IEM is presented that mixes elements from the diagnostic approach with pathophysiological considerations into three large categories based on the size of molecules ("small and simple" or "large and complex") and their implication in energy metabolism. But from another side, whatever their size, metabolites involved in IEM may behave in the brain as signalling molecules, structural components and fuels, and many metabolites have more than one role. Neurometabolism is becoming more relevant, not only in relation to these new categories of diseases but also as a necessary way to explain the mechanisms of brain damage in classically defined categories of IEM. Brain metabolism, which has been largely disregarded in the traditional approach to investigating and treating neurological diseases, is a major clue and probably the next imminent "revolution" in neurology and neuroscience. Biochemistry (metabolism) and cell neurobiology need to meet. Additionally, the brain should be studied as a system (connecting different levels of complexity).
    MeSH term(s) Brain/physiopathology ; Energy Metabolism ; Humans ; Metabolism, Inborn Errors/classification ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/diagnosis ; Nervous System Diseases/etiology ; Signal Transduction
    Language English
    Publishing date 2018-07-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/s10545-018-0226-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Neurometabolic disorders.

    Saudubray, Jean-Marie

    Journal of inherited metabolic disease

    2009  Volume 32, Issue 5, Page(s) 595

    MeSH term(s) Brain Diseases, Metabolic, Inborn/complications ; Brain Diseases, Metabolic, Inborn/diagnosis ; Brain Diseases, Metabolic, Inborn/etiology ; Epilepsy/etiology ; Epilepsy/metabolism ; Humans ; Infant, Newborn ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Movement Disorders/etiology
    Language English
    Publishing date 2009-09-15
    Publishing country United States
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/s10545-009-9958-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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