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LINK . SPRINGER . COM {}

  1. Analyzed Page
  2. Matching Content Categories
  3. CMS
  4. Monthly Traffic Estimate
  5. How Does Link.springer.com Make Money
  6. Keywords
  7. Topics
  8. Schema
  9. External Links
  10. Analytics And Tracking
  11. Libraries

We are analyzing https://link.springer.com/article/10.1007/s10545-010-9250-z.

Title:
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations | Journal of Inherited Metabolic Disease
Description:
Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-old girl, who developed an acute, isolated, severe liver failure with mitochondrial pathology and decreased respiratory chain enzyme activities both in liver and skeletal muscle at 4 months of age. Her liver function improved significantly within a month, liver function tests returned to normal. Liver cirrhosis remained without any further complications so far. Pathogenic compound heterozygous mutations were identified in the TRMU gene. This condition is one of the few mitochondrial disorders with a life-threatening onset showing recovery later in life, therefore a prompt diagnosis and treatment of these patients has great importance in clinical practice. We suggest that TRMU deficiency should be considered in infants with acute liver disease.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

  • Science
  • Education
  • Health & Fitness

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month


Based on our best estimate, this website will receive around 7,642,828 visitors per month in the current month.

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How Does Link.springer.com Make Money? {💸}

The income method remains a mystery to us.

While many websites aim to make money, others are created to share knowledge or showcase creativity. People build websites for various reasons. This could be one of them. Link.springer.com has a revenue plan, but it's either invisible or we haven't found it.

Keywords {🔍}

article, mitochondrial, pubmed, google, scholar, cas, liver, mutations, genet, mutation, disease, hum, trmu, deficiency, translation, university, acute, failure, horvath, respiratory, chain, access, germany, privacy, cookies, content, journal, research, cirrhosis, angela, rita, combined, gene, human, myopathy, dna, essen, newcastle, information, publish, search, kleistretzow, elke, depletion, nuclear, patients, molecular, cologne, function, data,

Topics {✒️}

jürgen-christoph von kleist-retzow elke holinski-feder & rita horvath month download article/chapter acute liver failure liver cirrhosis remained severe liver failure von kleist-retzow acute liver disease mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase mitochondrial-related nuclear genes mitochondrial ribosomal protein full article pdf lactic acidosis infantile encephalopathy sideroblastic anemia–mlasa syndrome mitochondrial trna trp privacy choices/manage cookies oxidative phosphorylation deficiencies sánchez-alcázar ja mitochondrial dna mutations rita horvath neuromuscular diseases mitochondrial dna depletion 12s rrna mutations patrick gerner related subjects check access instant access article schara elke lainka subsequent cirrhosis infantile reversible cytochrome liver histology human trmu encoding european economic area hanns lochmüller tuppen ha van den heuvel excellent technical assistance coenzyme q10 deficiency conditions privacy policy ribosomal protein friedrich-baur institute oxidase deficiency myopathy article journal primary manifestation molecular medicine cmmc trmu gene accepting optional cookies human genetics

Schema {🗺️}

WebPage:
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         headline:Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
         description:Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-old girl, who developed an acute, isolated, severe liver failure with mitochondrial pathology and decreased respiratory chain enzyme activities both in liver and skeletal muscle at 4 months of age. Her liver function improved significantly within a month, liver function tests returned to normal. Liver cirrhosis remained without any further complications so far. Pathogenic compound heterozygous mutations were identified in the TRMU gene. This condition is one of the few mitochondrial disorders with a life-threatening onset showing recovery later in life, therefore a prompt diagnosis and treatment of these patients has great importance in clinical practice. We suggest that TRMU deficiency should be considered in infants with acute liver disease.
         datePublished:2010-12-10T00:00:00Z
         dateModified:2010-12-10T00:00:00Z
         pageStart:197
         pageEnd:201
         sameAs:https://doi.org/10.1007/s10545-010-9250-z
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            Lactic Acidosis
            CoQ10
            Acute Liver Failure
            Compound Heterozygous Mutation
            Respiratory Chain Enzyme
            Metabolic Diseases
            Human Genetics
            Pediatrics
            Internal Medicine
            Biochemistry
            general
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                        name:Center for Molecular Medicine CMMC, University of Cologne, Cologne, Germany
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                        type:PostalAddress
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                     name:Newcastle University
                     address:
                        name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
                        type:PostalAddress
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                        name:Medical Genetics Center, Munich, Germany
                        type:PostalAddress
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                     name:Medical Genetics Center
                     address:
                        name:Medical Genetics Center, Munich, Germany
                        type:PostalAddress
                     type:Organization
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                     name:Medical Genetics Center
                     address:
                        name:Medical Genetics Center, Munich, Germany
                        type:PostalAddress
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               name:Rita Horvath
               affiliation:
                     name:Newcastle University
                     address:
                        name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
                        type:PostalAddress
                     type:Organization
                     name:Newcastle University
                     address:
                        name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
                        type:PostalAddress
                     type:Organization
                     name:Medical Genetics Center
                     address:
                        name:Medical Genetics Center, Munich, Germany
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ScholarlyArticle:
      headline:Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
      description:Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-old girl, who developed an acute, isolated, severe liver failure with mitochondrial pathology and decreased respiratory chain enzyme activities both in liver and skeletal muscle at 4 months of age. Her liver function improved significantly within a month, liver function tests returned to normal. Liver cirrhosis remained without any further complications so far. Pathogenic compound heterozygous mutations were identified in the TRMU gene. This condition is one of the few mitochondrial disorders with a life-threatening onset showing recovery later in life, therefore a prompt diagnosis and treatment of these patients has great importance in clinical practice. We suggest that TRMU deficiency should be considered in infants with acute liver disease.
      datePublished:2010-12-10T00:00:00Z
      dateModified:2010-12-10T00:00:00Z
      pageStart:197
      pageEnd:201
      sameAs:https://doi.org/10.1007/s10545-010-9250-z
      keywords:
         Lactic Acidosis
         CoQ10
         Acute Liver Failure
         Compound Heterozygous Mutation
         Respiratory Chain Enzyme
         Metabolic Diseases
         Human Genetics
         Pediatrics
         Internal Medicine
         Biochemistry
         general
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         name:Journal of Inherited Metabolic Disease
         issn:
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         volumeNumber:34
         type:
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            PublicationVolume
      publisher:
         name:Springer Netherlands
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Ulrike Schara
            affiliation:
                  name:University of Essen
                  address:
                     name:Pediatric Neurology, University of Essen, Essen, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Jürgen-Christoph von Kleist-Retzow
            affiliation:
                  name:University of Cologne
                  address:
                     name:Department of Pediatrics, University of Cologne, Cologne, Germany
                     type:PostalAddress
                  type:Organization
                  name:University of Cologne
                  address:
                     name:Center for Molecular Medicine CMMC, University of Cologne, Cologne, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Elke Lainka
            affiliation:
                  name:University of Essen
                  address:
                     name:Pediatric Gastroenterology, University of Essen, Essen, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Patrick Gerner
            affiliation:
                  name:University of Essen
                  address:
                     name:Pediatric Gastroenterology, University of Essen, Essen, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Angela Pyle
            affiliation:
                  name:Newcastle University
                  address:
                     name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
                  name:Newcastle University
                  address:
                     name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Paul M. Smith
            affiliation:
                  name:Newcastle University
                  address:
                     name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Hanns Lochmüller
            affiliation:
                  name:Newcastle University
                  address:
                     name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Birgit Czermin
            affiliation:
                  name:Medical Genetics Center
                  address:
                     name:Medical Genetics Center, Munich, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Angela Abicht
            affiliation:
                  name:Medical Genetics Center
                  address:
                     name:Medical Genetics Center, Munich, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Elke Holinski-Feder
            affiliation:
                  name:Medical Genetics Center
                  address:
                     name:Medical Genetics Center, Munich, Germany
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Rita Horvath
            affiliation:
                  name:Newcastle University
                  address:
                     name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
                  name:Newcastle University
                  address:
                     name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
                     type:PostalAddress
                  type:Organization
                  name:Medical Genetics Center
                  address:
                     name:Medical Genetics Center, Munich, Germany
                     type:PostalAddress
                  type:Organization
            email:[email protected]
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      name:Springer Netherlands
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      name:University of Essen
      address:
         name:Pediatric Neurology, University of Essen, Essen, Germany
         type:PostalAddress
      name:University of Cologne
      address:
         name:Department of Pediatrics, University of Cologne, Cologne, Germany
         type:PostalAddress
      name:University of Cologne
      address:
         name:Center for Molecular Medicine CMMC, University of Cologne, Cologne, Germany
         type:PostalAddress
      name:University of Essen
      address:
         name:Pediatric Gastroenterology, University of Essen, Essen, Germany
         type:PostalAddress
      name:University of Essen
      address:
         name:Pediatric Gastroenterology, University of Essen, Essen, Germany
         type:PostalAddress
      name:Newcastle University
      address:
         name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Newcastle University
      address:
         name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Newcastle University
      address:
         name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Newcastle University
      address:
         name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Medical Genetics Center
      address:
         name:Medical Genetics Center, Munich, Germany
         type:PostalAddress
      name:Medical Genetics Center
      address:
         name:Medical Genetics Center, Munich, Germany
         type:PostalAddress
      name:Medical Genetics Center
      address:
         name:Medical Genetics Center, Munich, Germany
         type:PostalAddress
      name:Newcastle University
      address:
         name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Newcastle University
      address:
         name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
         type:PostalAddress
      name:Medical Genetics Center
      address:
         name:Medical Genetics Center, Munich, Germany
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Ulrike Schara
      affiliation:
            name:University of Essen
            address:
               name:Pediatric Neurology, University of Essen, Essen, Germany
               type:PostalAddress
            type:Organization
      name:Jürgen-Christoph von Kleist-Retzow
      affiliation:
            name:University of Cologne
            address:
               name:Department of Pediatrics, University of Cologne, Cologne, Germany
               type:PostalAddress
            type:Organization
            name:University of Cologne
            address:
               name:Center for Molecular Medicine CMMC, University of Cologne, Cologne, Germany
               type:PostalAddress
            type:Organization
      name:Elke Lainka
      affiliation:
            name:University of Essen
            address:
               name:Pediatric Gastroenterology, University of Essen, Essen, Germany
               type:PostalAddress
            type:Organization
      name:Patrick Gerner
      affiliation:
            name:University of Essen
            address:
               name:Pediatric Gastroenterology, University of Essen, Essen, Germany
               type:PostalAddress
            type:Organization
      name:Angela Pyle
      affiliation:
            name:Newcastle University
            address:
               name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
            name:Newcastle University
            address:
               name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
      name:Paul M. Smith
      affiliation:
            name:Newcastle University
            address:
               name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
      name:Hanns Lochmüller
      affiliation:
            name:Newcastle University
            address:
               name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
      name:Birgit Czermin
      affiliation:
            name:Medical Genetics Center
            address:
               name:Medical Genetics Center, Munich, Germany
               type:PostalAddress
            type:Organization
      name:Angela Abicht
      affiliation:
            name:Medical Genetics Center
            address:
               name:Medical Genetics Center, Munich, Germany
               type:PostalAddress
            type:Organization
      name:Elke Holinski-Feder
      affiliation:
            name:Medical Genetics Center
            address:
               name:Medical Genetics Center, Munich, Germany
               type:PostalAddress
            type:Organization
      name:Rita Horvath
      affiliation:
            name:Newcastle University
            address:
               name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
            name:Newcastle University
            address:
               name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
               type:PostalAddress
            type:Organization
            name:Medical Genetics Center
            address:
               name:Medical Genetics Center, Munich, Germany
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Pediatric Neurology, University of Essen, Essen, Germany
      name:Department of Pediatrics, University of Cologne, Cologne, Germany
      name:Center for Molecular Medicine CMMC, University of Cologne, Cologne, Germany
      name:Pediatric Gastroenterology, University of Essen, Essen, Germany
      name:Pediatric Gastroenterology, University of Essen, Essen, Germany
      name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
      name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
      name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
      name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
      name:Medical Genetics Center, Munich, Germany
      name:Medical Genetics Center, Munich, Germany
      name:Medical Genetics Center, Munich, Germany
      name:Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
      name:Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
      name:Medical Genetics Center, Munich, Germany
WebPageElement:
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External Links {🔗}(108)

Analytics and Tracking {📊}

  • Google Tag Manager

Libraries {📚}

  • Clipboard.js
  • Prism.js

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