We are analyzing https://link.springer.com/chapter/10.1007/8904_2013_230.

Title:
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases | SpringerLink
Description:
Combined respiratory chain defect is a common feature in mitochondrial liver disease during early infancy. Mitochondrial DNA depletions, induced by mutations of the nuclear genes POLG, DGUOK, and MPV17, are the major causes of these combined deficiencies. More...
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

Science
Education
Books & Literature

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 5,000,019 visitors per month in the current month.
However, some sources were not loaded, we suggest to reload the page to get complete results.

check SE Ranking
check Ahrefs
check Similarweb
check Ubersuggest
check Semrush

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

We can't see how the site brings in money.

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 secret sauce for making money, but we can't detect it yet.

Keywords {🔍}

mitochondrial, article, google, scholar, pubmed, cas, mutations, trmu, liver, chapter, dna, gene, emmanuel, manuscript, infantile, respiratory, chain, genet, analysis, information, defect, depletion, patients, privacy, cookies, content, publish, jimd, reports, disease, gaignard, abdelhamid, slama, combined, translation, access, diagnosis, deficiency, followup, heidelberg, revising, data, search, due, pauline, gonzales, oanez, ackermann, isabelle, correia,

Topics {✒️}

month download article/chapter mitochondrial trna-specific 2-thiouridylase von kleist-retzow jc mitochondrial liver disease hôpitaux universitaires paris-sud oanez ackermann & emmanuel jacquemin acute liver failure respiratory chain deficiencies le kremlin-bicêtre cedex springer-verlag berlin heidelberg mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase mitochondrial liver diseases mitochondrial liver disorders mitochondrial translation defect respiratory chain complexes privacy choices/manage cookies mousson de camaret abdelhamid slama mitochondrial dna depletion device instant download mitochondrial dna depletions mitochondrial dna deletion editor information editors neonatal mitochondrial cytopathies mitochondrial membrane protein complex iv deficiency biochemistry genetics unit infantile hepatopathy related nuclear factors involved le kremlin-bicêtre jimd reports human mitochondrial diseases combined deficiencies 12s rrna mutations deoxyguanosine kinase gene european economic area patrice therond unrelated children presenting genotype–phenotype correlation genotype phenotype correlations escherichia coli k-12 nuclear genes polg allowed accumulating data trmu gene encoding conditions privacy policy chapter gaignard mitochondrial translation bi-allelic mutations chapter usd 29 check access

Schema {🗺️}

ScholarlyArticle:
      headline:Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
      pageEnd:123
      pageStart:117
      image:https://media.springernature.com/w153/springer-static/cover/book/978-3-642-37328-2.jpg
      genre:
         Medicine
         Medicine (R0)
      isPartOf:
         name:JIMD Reports - Volume 11
         isbn:
            978-3-642-37328-2
            978-3-642-37327-5
         type:Book
      publisher:
         name:Springer Berlin Heidelberg
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Pauline Gaignard
            affiliation:
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Emmanuel Gonzales
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Oanez Ackermann
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Philippe Labrune
            affiliation:
                  name:AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Isabelle Correia
            affiliation:
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Patrice Therond
            affiliation:
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Emmanuel Jacquemin
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Abdelhamid Slama
            affiliation:
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      keywords:Respiratory Chain Complex, Splice Mutation, Mitochondrial tRNA, Recurrent Hypoglycemia, Microvesicular Steatosis
      description:Combined respiratory chain defect is a common feature in mitochondrial liver disease during early infancy. Mitochondrial DNA depletions, induced by mutations of the nuclear genes POLG, DGUOK, and MPV17, are the major causes of these combined deficiencies. More recently, mutations in TRMU gene encoding the mitochondrial tRNA-specific 2-thiouridylase were found in infantile hepatopathy related to mitochondrial translation defect. It is characterized by a combined defect of respiratory chain complexes without mitochondrial DNA depletion. We report here clinical, biochemical, and genetic findings from three unrelated children presenting with hepatopathy associated with hyperlactatemia and respiratory chain defect due to bi-allelic mutations in TRMU gene. Two patients recovered spontaneously in a few months, whereas the other one died of acute liver failure. Spontaneous remission is a rare feature in mitochondrial liver diseases, and early identification of TRMU mutations could impact on clinical management. Our results extend the small number of TRMU mutations reported in mitochondrial liver disorders and allowed accumulating data for genotype–phenotype correlation.
      datePublished:2013
      isAccessibleForFree:
      hasPart:
         isAccessibleForFree:
         cssSelector:.main-content
         type:WebPageElement
      context:https://schema.org
Book:
      name:JIMD Reports - Volume 11
      isbn:
         978-3-642-37328-2
         978-3-642-37327-5
Organization:
      name:Springer Berlin Heidelberg
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
         type:PostalAddress
      name:AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud
      address:
         name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
         type:PostalAddress
      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
      address:
         name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
         type:PostalAddress
      name:Centre de référence des maladies mitochondriales
      address:
         name:Centre de référence des maladies mitochondriales, Paris, France
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Pauline Gaignard
      affiliation:
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
               type:PostalAddress
            type:Organization
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
      name:Emmanuel Gonzales
      affiliation:
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
            type:Organization
      name:Oanez Ackermann
      affiliation:
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
            type:Organization
      name:Philippe Labrune
      affiliation:
            name:AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud
            address:
               name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
               type:PostalAddress
            type:Organization
      name:Isabelle Correia
      affiliation:
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
               type:PostalAddress
            type:Organization
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
      name:Patrice Therond
      affiliation:
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
               type:PostalAddress
            type:Organization
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
      name:Emmanuel Jacquemin
      affiliation:
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
            type:Organization
      name:Abdelhamid Slama
      affiliation:
            name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
            address:
               name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
               type:PostalAddress
            type:Organization
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
      name:Centre de référence des maladies mitochondriales, Paris, France
WebPageElement:
      isAccessibleForFree:
      cssSelector:.main-content

External Links {🔗}(100)

Analytics and Tracking {📊}

Google Tag Manager

Libraries {📚}

Clipboard.js

CDN Services {📦}

Pbgrd

4.74s.

LINK . SPRINGER . COM {}