We are analyzing https://link.springer.com/book/10.1007/978-3-662-58365-4.

Title:
JIMD Reports, Volume 42 | SpringerLink
Description:
This contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
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Keywords {🔍}

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Topics {✒️}

inherited metabolic disorders metabolic diseases mendelian disorder rare metabolic disorders female sib-pair jessie perspective paula pérez-albert miguel ángel fernández-garcía medical university innsbruck molecular genetics unit metabolic disorders device instant download pediatrics short research reports privacy choices/manage cookies human genetics book series case reports highlight bioelectrical impedance analysis teresa de rojas disease association ann van schepdael chilean pku patients check access top access access licence clustered causal effects giant cell tumour therapy raajiv prasad elosulfase alfa kenneth emerging phenotype overlapping coenzyme q10 deficiency phenylketonuria maureen evans cristina aparicio lópez mucopolysaccharidosis amy schadewald marie-anne kuijper cog6 gene defect review nouf althonaian margarida ayres basto disorder jimd reports research reports measure body composition pdf read heidelberg university hospital conditions privacy policy accepting optional cookies european economic area 52-week pilot study coenzyme q8a results journal finder publish

Schema {🗺️}

Book:
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      genre:
         Biomedical and Life Sciences
         Biomedical and Life Sciences (R0)
      publisher:
         name:Springer Berlin Heidelberg
         logo:
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            type:ImageObject
         type:Organization
      editor:
            name:Eva Morava
            affiliation:
                  name:
                  address:
                     name:Tulane University Medical School, New Orleans, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Matthias Baumgartner
            affiliation:
                  name:
                  address:
                     name:Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Marc Patterson
            affiliation:
                  name:
                  address:
                     name:Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Shamima Rahman
            affiliation:
                  name:
                  address:
                     name:Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Johannes Zschocke
            affiliation:
                  name:
                  address:
                     name:Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Verena Peters
            affiliation:
                  name:
                  address:
                     name:Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
      keywords:inherited metabolic diseases, pediatrics, medical genetics, Mendelian disorder, endocrinology, metabolic disease
      description:This contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
      copyrightYear:2018
      name:JIMD Reports, Volume 42
      numberOfPages:6
      isbn:978-3-662-58365-4
      copyrightHolder:
         name:Society for the Study of Inborn Errors of Metabolism (SSIEM)
         type:Organization
      context:https://schema.org
Organization:
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         type:PostalAddress
      name:
      address:
         name:Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland
         type:PostalAddress
      name:
      address:
         name:Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA
         type:PostalAddress
      name:
      address:
         name:Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
         type:PostalAddress
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      address:
         name:Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
         type:PostalAddress
      name:
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         name:Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany
         type:PostalAddress
      name:Society for the Study of Inborn Errors of Metabolism (SSIEM)
ImageObject:
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Person:
      name:Eva Morava
      affiliation:
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            address:
               name:Tulane University Medical School, New Orleans, USA
               type:PostalAddress
            type:Organization
      name:Matthias Baumgartner
      affiliation:
            name:
            address:
               name:Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland
               type:PostalAddress
            type:Organization
      name:Marc Patterson
      affiliation:
            name:
            address:
               name:Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA
               type:PostalAddress
            type:Organization
      name:Shamima Rahman
      affiliation:
            name:
            address:
               name:Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
               type:PostalAddress
            type:Organization
      name:Johannes Zschocke
      affiliation:
            name:
            address:
               name:Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
               type:PostalAddress
            type:Organization
      name:Verena Peters
      affiliation:
            name:
            address:
               name:Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Tulane University Medical School, New Orleans, USA
      name:Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland
      name:Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA
      name:Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
      name:Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
      name:Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany
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