Julien Baruteau

Julien Baruteau

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Julien Baruteau

Julien Baruteau

Publications by authors named "Julien Baruteau"

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Liver neoplasms in methylmalonic aciduria: An emerging complication.

J Inherit Metab Dis 2019 Sep 17;42(5):793-802. Epub 2019 Jul 17.

Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, London, UK.

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http://dx.doi.org/10.1002/jimd.12143DOI Listing
September 2019

Fetal gene therapy for neurodegenerative lysosomal storage diseases.

J Inherit Metab Dis 2019 May 4;42(3):391-393. Epub 2019 Feb 4.

Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK.

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http://dx.doi.org/10.1002/jimd.12018DOI Listing
May 2019

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

JIMD Rep 2019 Mar 14;46(1):11-15. Epub 2019 Mar 14.

Laboratoire de Biochimie Métabolique Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse Toulouse France.

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http://dx.doi.org/10.1002/jmd2.12020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498833PMC
March 2019

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

J Inherit Metab Dis 2019 Feb 5. Epub 2019 Feb 5.

Division of Metabolism and Children Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12047DOI Listing
February 2019

Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort.

Hum Gene Ther 2019 Jan 19;30(1):79-87. Epub 2018 Oct 19.

1 Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

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http://www.liebertpub.com/doi/10.1089/hum.2018.098
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http://dx.doi.org/10.1089/hum.2018.098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343184PMC
January 2019

Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth, and Neonatal Brain Injury in Pregnant Mice.

Am J Pathol 2018 10 21;188(10):2164-2176. Epub 2018 Jul 21.

Gene Transfer Technology Group, University College London, London, United Kingdom; MRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1016/j.ajpath.2018.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168615PMC
October 2018

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

J Inherit Metab Dis 2017 07 31;40(4):497-517. Epub 2017 May 31.

Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/s10545-017-0053-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500673PMC
July 2017

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Pediatr Res 2017 May 13;81(5):712-721. Epub 2017 Jan 13.

Department of pathology, Hôpital Femme-Mère-Enfant, CHU de Lyon, France.

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http://dx.doi.org/10.1038/pr.2017.8DOI Listing
May 2017

Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.

J Pediatr 2015 Jan 23;166(1):66-73. Epub 2014 Oct 23.

Medical-Surgical Center, Hepatology, and Transplantation AP-HP, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2014.09.030DOI Listing
January 2015

Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.

J Pediatr Gastroenterol Nutr 2014 Nov;59(5):629-35

*Pediatric Hepatology and Inborn Metabolic Diseases Unit, University Children's Hospital, Toulouse †Department of Pediatric Gastroenterology, Hepatology and Nutrition ‡Pathology Department, Hopital Femme Mère Enfant, Bron §Pathology Department, Institut Gustave Roussy ||Sorbonne Universités, UPMC Univ Paris 06, Paris ¶Internal Medicine Department #Special Care Baby Unit, Poissy-Saint Germain en Laye Hospital, Poissy **Clinical Genetics, Hopital Femme Mère Enfant, Bron ‡‡Pediatric Hepatology and Gastroenterology Unit §§Special Care Baby Unit, University Children's Hospital, Bordeaux ||Fetal Medicine, Saint Nicolas Hospital, Blaye ¶¶Neonatal Intensive Care Unit, Armand Trousseau Hospital, Paris ##Neonatal Intensive Care Unit, General Hospital, Saint-Brieuc ***Pediatric Surgery, Saint-Brieuc †††Clinical Genetics, University Hospital, Rennes, France ‡‡‡Metabolic Medicine Department, Great Ormond Street Hospital, London, UK §§§Department of Pediatric Surgery, Hepatology, and Transplantation, Necker Enfants Malades Hospital, Paris ||||||Pediatrics, University Hospital, Limoges, France.

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http://dx.doi.org/10.1097/MPG.0000000000000514DOI Listing
November 2014

Transcatheter closure of patent ductus arteriosus: past, present and future.

Arch Cardiovasc Dis 2014 Feb 20;107(2):122-32. Epub 2014 Feb 20.

Children's Hospital at Montefiore, Pediatric Cardiology, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY, USA.

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http://www.omicsonline.org/transcatheter-closure-of-patent-d
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http://linkinghub.elsevier.com/retrieve/pii/S187521361400024
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http://dx.doi.org/10.1016/j.acvd.2014.01.008DOI Listing
February 2014

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

J Inherit Metab Dis 2014 Jan 27;37(1):137-9. Epub 2013 Jun 27.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France,

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http://dx.doi.org/10.1007/s10545-013-9628-9DOI Listing
January 2014

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

J Inherit Metab Dis 2013 Sep 3;36(5):795-803. Epub 2012 Oct 3.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France.

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http://dx.doi.org/10.1007/s10545-012-9542-6DOI Listing
September 2013

French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.

Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17.

Department of Pathology, Hôpital Femme-Mère-Enfant, HCL and University Claude Bernard, Lyon, France.

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http://dx.doi.org/10.2350/12-02-1155-OA.1DOI Listing
March 2013

Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra.

J Pediatr Endocrinol Metab 2011 ;24(5-6):249

Department of Pediatric Neurology and Metabolic Diseases, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1515/jpem.2011.040DOI Listing
August 2011

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

Am J Med Genet A 2010 Apr;152A(4):982-6

Réanimation Néonatale et Pédiatrique, Centre Hospitalier Régional Félix Guyon, La Réunion, France.

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http://dx.doi.org/10.1002/ajmg.a.33327DOI Listing
April 2010

The differential diagnosis of primary electrical diseases from seizures in childhood.

Cardiol Young 2010 Feb 13;20(1):111-2. Epub 2010 Jan 13.

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http://dx.doi.org/10.1017/S1047951109991983DOI Listing
February 2010

Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).

J Pediatr Endocrinol Metab 2009 Dec;22(12):1175-7

APHP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et Maladies Héréditaires du Métabolisme, Paris, France.

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http://dx.doi.org/10.1515/jpem.2009.22.12.1175DOI Listing
December 2009