Broué P - Search Results

1

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

Baruteau J, Levade T, Redonnet-Vernhet I, Mesli S, Bloom MC, Broué P. Baruteau J, et al. Among authors: broue p. J Pediatr Endocrinol Metab. 2009 Dec;22(12):1175-7. doi: 10.1515/jpem.2009.22.12.1175. J Pediatr Endocrinol Metab. 2009. PMID: 20333879

2

[Diagnosis and management of metabolic liver failure in children].

Broué P, Baruteau J. Broué P, et al. Arch Pediatr. 2009 Jun;16(6):640-2. doi: 10.1016/S0929-693X(09)74096-5. Arch Pediatr. 2009. PMID: 19541114 French. No abstract available.

3

[New insights into perinatal hemochromatosis].

Baruteau J, Heissat S, Collardeau-Frachon S, Debray D, Broué P, Guigonis V. Baruteau J, et al. Among authors: broue p. Arch Pediatr. 2012 Jul;19(7):755-61. doi: 10.1016/j.arcped.2012.04.011. Epub 2012 May 26. Arch Pediatr. 2012. PMID: 22633754 French.

4

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

Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V. Collardeau-Frachon S, et al. Among authors: broue p. Pediatr Dev Pathol. 2012 Nov-Dec;15(6):450-70. doi: 10.2350/12-02-1155-OA.1. Epub 2012 Aug 17. Pediatr Dev Pathol. 2012. PMID: 22901025

5

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group. Boutron A, et al. Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6. Mol Genet Metab. 2012. PMID: 22944367

6

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. Baruteau J, et al. Among authors: broue p. J Inherit Metab Dis. 2013 Sep;36(5):795-803. doi: 10.1007/s10545-012-9542-6. Epub 2012 Oct 3. J Inherit Metab Dis. 2013. PMID: 23053472

7

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. Baruteau J, et al. Among authors: broue p. J Inherit Metab Dis. 2014 Jan;37(1):137-9. doi: 10.1007/s10545-013-9628-9. Epub 2013 Jun 27. J Inherit Metab Dis. 2014. PMID: 23807318 No abstract available.

8

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. Heissat S, et al. Among authors: broue p. J Pediatr. 2015 Jan;166(1):66-73. doi: 10.1016/j.jpeds.2014.09.030. Epub 2014 Oct 23. J Pediatr. 2015. PMID: 25444000

9

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. Dubruc E, et al. Among authors: broue p. Pediatr Res. 2017 May;81(5):712-721. doi: 10.1038/pr.2017.8. Epub 2017 Jan 13. Pediatr Res. 2017. PMID: 28085791

10

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. Dubot P, et al. Among authors: broue p. JIMD Rep. 2019 Mar 14;46(1):11-15. doi: 10.1002/jmd2.12020. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240149 Free PMC article.

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