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Items: 1 to 20 of 27

1.

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

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.

2.

Liver neoplasms in methylmalonic aciduria: An emerging complication.

Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S.

J Inherit Metab Dis. 2019 Sep;42(5):793-802. doi: 10.1002/jimd.12143. Epub 2019 Jul 17.

PMID:
31260114
3.

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

Dubot P, Astudillo L, Touati G, Baruteau J, Broué P, Roche S, Sabourdy F, Levade T.

JIMD Rep. 2019 Mar 14;46(1):11-15. doi: 10.1002/jmd2.12020. eCollection 2019 Mar.

4.

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J.

J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5.

PMID:
30723942
5.

Fetal gene therapy for neurodegenerative lysosomal storage diseases.

Baruteau J, Waddington SN.

J Inherit Metab Dis. 2019 May;42(3):391-393. doi: 10.1002/jimd.12018. Epub 2019 Feb 4. No abstract available.

PMID:
30715735
6.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Baruteau J, Perocheau DP, Hanley J, Lorvellec M, Rocha-Ferreira E, Karda R, Ng J, Suff N, Diaz JA, Rahim AA, Hughes MP, Banushi B, Prunty H, Hristova M, Ridout DA, Virasami A, Heales S, Howe SJ, Buckley SMK, Mills PB, Gissen P, Waddington SN.

Nat Commun. 2018 Aug 29;9(1):3505. doi: 10.1038/s41467-018-05972-1.

7.

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

Counsell JR, Karda R, Diaz JA, Carey L, Wiktorowicz T, Buckley SMK, Ameri S, Ng J, Baruteau J, Almeida F, de Silva R, Simone R, Lugarà E, Lignani G, Lindemann D, Rethwilm A, Rahim AA, Waddington SN, Howe SJ.

Mol Ther Nucleic Acids. 2018 Sep 7;12:626-634. doi: 10.1016/j.omtn.2018.07.006. Epub 2018 Aug 3.

8.

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

Suff N, Karda R, Diaz JA, Ng J, Baruteau J, Perocheau D, Tangney M, Taylor PW, Peebles D, Buckley SMK, Waddington SN.

Am J Pathol. 2018 Oct;188(10):2164-2176. doi: 10.1016/j.ajpath.2018.06.016. Epub 2018 Jul 21.

9.

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

Perocheau DP, Cunningham S, Lee J, Antinao Diaz J, Waddington SN, Gilmour K, Eaglestone S, Lisowski L, Thrasher AJ, Alexander IE, Gissen P, Baruteau J.

Hum Gene Ther. 2019 Jan;30(1):79-87. doi: 10.1089/hum.2018.098. Epub 2018 Oct 19.

10.

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

Baruteau J, Waddington SN, Alexander IE, Gissen P.

J Inherit Metab Dis. 2017 Jul;40(4):497-517. doi: 10.1007/s10545-017-0053-3. Epub 2017 May 31. Review.

11.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

12.

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Dubruc E, Nadaud B, Ruchelli E, Heissat S, Baruteau J, Broué P, Debray D, Cordier MP, Miossec P, Russo P, Collardeau-Frachon S.

Pediatr Res. 2017 May;81(5):712-721. doi: 10.1038/pr.2017.8. Epub 2017 Jan 13.

PMID:
28085791
13.

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

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A.

Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2.

14.

Perinatal systemic gene delivery using adeno-associated viral vectors.

Karda R, Buckley SM, Mattar CN, Ng J, Massaro G, Hughes MP, Kurian MA, Baruteau J, Gissen P, Chan JK, Bacchelli C, Waddington SN, Rahim AA.

Front Mol Neurosci. 2014 Nov 14;7:89. doi: 10.3389/fnmol.2014.00089. eCollection 2014. Review.

15.

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

Heissat S, Collardeau-Frachon S, Baruteau J, Dubruc E, Bouvier R, Fabre M, Cordier MP, Broué P, Guigonis V, Debray D.

J Pediatr. 2015 Jan;166(1):66-73. doi: 10.1016/j.jpeds.2014.09.030. Epub 2014 Oct 23.

PMID:
25444000
16.

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

Baruteau J, Heissat S, Broué P, Collardeau-Frachon S, Bouvier R, Fabre M, Debiec H, Ronco P, Uzan M, Narcy P, Cordier MP, Lachaux A, Lamireau T, Elleau C, Filet JP, Mitanchez D, Dupuy MP, Salaün JF, Odent S, Davison J, Debray D, Guigonis V.

J Pediatr Gastroenterol Nutr. 2014 Nov;59(5):629-35. doi: 10.1097/MPG.0000000000000514.

PMID:
25079484
17.

Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase.

Baruteau J, Nyabi O, Najimi M, Fauvart M, Sokal E.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):863-8. doi: 10.1515/jpem-2013-0425.

PMID:
24825084
18.

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

Baruteau AE, Hascoët S, Baruteau J, Boudjemline Y, Lambert V, Angel CY, Belli E, Petit J, Pass R.

Arch Cardiovasc Dis. 2014 Feb;107(2):122-32. doi: 10.1016/j.acvd.2014.01.008. Epub 2014 Feb 20. Review.

19.

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

Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H.

J Inherit Metab Dis. 2014 Jan;37(1):137-9. doi: 10.1007/s10545-013-9628-9. Epub 2013 Jun 27. No abstract available.

PMID:
23807318
20.

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

Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H.

J Inherit Metab Dis. 2013 Sep;36(5):795-803. doi: 10.1007/s10545-012-9542-6. Epub 2012 Oct 3.

PMID:
23053472

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