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Page 1
A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.
Valette C, Jonca N, Fischer J, Pernin-Grandjean J, Granier Tournier C, Diociaiuti A, Neri I, Dreyfus I, Furman M, Giehl K, Wollenberg A, Mallet S, Martin L, Martin-Santiago A, Onnis G, Broue P, Leclerc-Mercier S, Schmuth M, Sprecher E, Gruber R, Suessmuth K, Bourrat E, Komlosi K, Hill S, O'Toole EA, Schischmanoff O, Caux F, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group and of the ‘ERN-Skin Network’. Valette C, et al. Among authors: broue p. J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1237-e1241. doi: 10.1111/jdv.19235. Epub 2023 Jun 20. J Eur Acad Dermatol Venereol. 2023. PMID: 37257069 No abstract available.
[Neurological trouble in a 68-year-old woman].
Larrauffie A, Porcheron M, Pariente J, Wolfrum M, Bureau C, Zadro C, Otal P, Broue P, Sailler L, Moulis G, Maquet J, Goulabchand R. Larrauffie A, et al. Among authors: broue p. Rev Med Interne. 2023 Sep;44(9):529-532. doi: 10.1016/j.revmed.2023.05.011. Epub 2023 Jun 7. Rev Med Interne. 2023. PMID: 37296033 French. No abstract available.
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: broue p. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: broue p. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: broue p. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Ouattara A, et al. Among authors: broue p. J Pediatr. 2023 Mar;254:39-47.e4. doi: 10.1016/j.jpeds.2022.08.060. Epub 2022 Oct 17. J Pediatr. 2023. PMID: 36265570
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M, Spraul A, Ruiz M, Girard M, Roquelaure B, Laborde N, Gottrand F, Turquet A, Lamireau T, Dabadie A, Bonneton M, Thebaut A, Rohmer B, Lacaille F, Broué P, Fabre A, Mention-Mulliez K, Bouligand J, Jacquemin E, Gonzales E. Almes M, et al. Among authors: broue p. Diagnostics (Basel). 2022 May 7;12(5):1169. doi: 10.3390/diagnostics12051169. Diagnostics (Basel). 2022. PMID: 35626323 Free PMC article.
Porto-Sinusoidal Vascular Disease: A Pediatric Study of 30 Patients.
Girard C, Laborde N, Marbach C, Mas E, Bureau C, Broué P. Girard C, et al. Among authors: broue p. J Pediatr Gastroenterol Nutr. 2022 Jun 1;74(6):e132-e137. doi: 10.1097/MPG.0000000000003445. Epub 2022 Mar 7. J Pediatr Gastroenterol Nutr. 2022. PMID: 35258501
68 results