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

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: bouchereau j. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Among authors: bouchereau j. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: bouchereau j. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: bouchereau j. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Tuchmann-Durand C, Thevenet E, Moulin F, Lesage F, Bouchereau J, Oualha M, Khraiche D, Brassier A, Wicker C, Gobin-Limballe S, Arnoux JB, Lacaille F, Wicart C, Coat B, Schlattler J, Cisternino S, Renolleau S, Secretan PH, De Lonlay P. Tuchmann-Durand C, et al. Among authors: bouchereau j. JIMD Rep. 2020 Jan 3;51(1):25-29. doi: 10.1002/jmd2.12090. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071836 Free PMC article.
29 results