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Lista de obras de Julien Baruteau

Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

artículo científico publicado en 2018

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

scientific article published on 05 February 2019

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

scientific article published on 21 July 2018

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

artículo científico publicado en 2020

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

artículo científico publicado en 2016

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

scientific article published on 17 July 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Delivering efficient liver-directed AAV-mediated gene therapy

artículo científico publicado en 2017

Dietary management of urea cycle disorders: European practice.

artículo científico publicado en 2013

Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra

artículo científico publicado en 2011

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

artículo científico publicado en 2017

Fetal gene therapy for neurodegenerative lysosomal storage diseases

artículo científico publicado en 2019

Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice

scholarly article by John R Counsell et al published 7 September 2018 in Molecular therapy. Nucleic acids

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Liver neoplasms in methylmalonic aciduria: An emerging complication

scientific article published on 17 July 2019

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C ⬇️

artículo científico publicado el 7 de junio de 2012

Mourning a chronic disease: diagnostic error experienced by two families ⬇️

artículo científico publicado el 5 de junio de 2012

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

artículo científico publicado en 2014

Nouveaux concepts dans l’hémochromatose périnatale

scientific article published on 26 May 2012

Novel therapies for mucopolysaccharidosis type III

scientific article published on 17 September 2020

Perinatal systemic gene delivery using adeno-associated viral vectors

artículo científico publicado en 2014

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

article published in 2010

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

artículo científico publicado en 2017

Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.

artículo científico publicado en 2013

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

artículo científico publicado en 2014

The exosome journey: from biogenesis to uptake and intracellular signalling

artículo científico publicado en 2021

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

artículo científico

Transient Neonatal Liver Disease After Maternal Antenatal Intravenous Ig Infusions in Gestational Alloimmune Liver Disease Associated With Neonatal Haemochromatosis

artículo científico publicado en 2014

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

scientific article published on 12 November 2019

[Chorioangiomatosis: a rare etiology of nonimmune hydrops fetalis. Obstetric and pediatric implications for patient care]

scientific article published on 20 August 2009

[Diagnosis and management of metabolic liver failure in children]

artículo científico publicado en 2009

[Sjögren-Larsson syndrome: 2 case reports]

artículo científico publicado en 2011

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

artículo científico publicado en 2020

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