Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

91 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Mauhin W, et al. Among authors: brassier a. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Nguyen Y, Stirnemann J, Lautredoux F, Cador B, Bengherbia M, Yousfi K, Hamroun D, Astudillo L, Billette de Villemeur T, Brassier A, Camou F, Dalbies F, Dobbelaere D, Gaches F, Leguy-Seguin V, Masseau A, Pers YM, Pichard S, Serratrice C, Berger MG, Fantin B, Belmatoug N, On Behalf Of The French Evaluation Of Gaucher Disease Treatment Committee. Nguyen Y, et al. Among authors: brassier a. Int J Mol Sci. 2020 Feb 13;21(4):1247. doi: 10.3390/ijms21041247. Int J Mol Sci. 2020. PMID: 32069933 Free PMC article.
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG. Serratrice C, et al. Among authors: brassier a. J Clin Med. 2020 Jul 22;9(8):2343. doi: 10.3390/jcm9082343. J Clin Med. 2020. PMID: 32708003 Free PMC article.
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
de Lonlay P, Posset R, Mütze U, Mention K, Lamireau D, Schiff M, Servais A, Arnoux JB, Brassier A, Dao M, Douillard C, Ottolenghi C, Pontoizeau C, Miotto F, Le Mouhaër J. de Lonlay P, et al. Among authors: brassier a. JIMD Rep. 2021 Mar 6;59(1):110-119. doi: 10.1002/jmd2.12207. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977036 Free PMC article.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
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: brassier a. J Pediatr. 2022 Mar;242:192-200.e3. doi: 10.1016/j.jpeds.2021.11.021. Epub 2021 Nov 14. J Pediatr. 2022. PMID: 34788681
[Pulmonary phenotypes of inborn errors of metabolism].
Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O. Mauhin W, et al. Among authors: brassier a. Rev Mal Respir. 2022 Nov;39(9):758-777. doi: 10.1016/j.rmr.2022.09.002. Epub 2022 Oct 10. Rev Mal Respir. 2022. PMID: 36229356 Review. French.
91 results