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

79 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: pichard s. Int J Mol Sci. 2020 Feb 13;21(4):1247. doi: 10.3390/ijms21041247. Int J Mol Sci. 2020. PMID: 32069933 Free PMC article.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: pichard s. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Cano A, Resseguier N, Ouattara 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, Chabrol B, Auquier P. Cano A, et al. Among authors: pichard s. J Pediatr. 2020 May;220:184-192.e6. doi: 10.1016/j.jpeds.2020.01.059. Epub 2020 Mar 4. J Pediatr. 2020. PMID: 32145964
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: pichard s. J Clin Med. 2020 Jul 22;9(8):2343. doi: 10.3390/jcm9082343. J Clin Med. 2020. PMID: 32708003 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: pichard s. 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
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
Genevaz D, Arnoux A, Marcel C, Brassier A, Pichard S, Feillet F, Labarthe F, Chabrol B, Berger M, Lapointe AS, Frigout Y, Héron B, Chatellier G, Belmatoug N. Genevaz D, et al. Among authors: pichard s. Orphanet J Rare Dis. 2022 Feb 21;17(1):68. doi: 10.1186/s13023-022-02232-w. Orphanet J Rare Dis. 2022. PMID: 35189927 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: pichard s. 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
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, Brassier A, Arnoux JB, Bouchereau J, Pichard S, Sissaoui S, Lacaille F, Girard M, Debray D, de Lonlay P, Schiff M. Hajji H, et al. Among authors: pichard s. Mol Genet Metab Rep. 2022 Nov 8;33:100933. doi: 10.1016/j.ymgmr.2022.100933. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393896 Free PMC article.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: pichard s. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
79 results