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Page 1
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M; International Congenital Hyperinsulinism Consortium; Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE. Bennett JJ, et al. Genome Med. 2025 Mar 3;17(1):17. doi: 10.1186/s13073-025-01440-w. Genome Med. 2025. PMID: 40033430 Free PMC article.
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R, Formánková R, Eisengart JB, Lund AM, Videbaek C, Gürbüz BB, Özbek NY, Al Jasmi F, Ješina P, Feillet F, Pochon C, Guémann AS, AlSayed M, Laktina S, Uçar SK, Aksoylar S, Lund TC, Orchard PJ, Eminoğlu FT, İleri T, Kasapkara ÇS, Yeşilipek A, Tuncel AT, Schulz A, Juríčková K, Hlavatá A, Santoro L, Magner M. Šáhó R, et al. Among authors: guemann as. J Inherit Metab Dis. 2025 Jul;48(4):e70047. doi: 10.1002/jimd.70047. J Inherit Metab Dis. 2025. PMID: 40551549
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.
Nguyen Y, Beydon M, Yousfi K, Zebiche S, Hamroun D, Brassier A, Pichard S, Swiader L, Billette de Villemeur T, Héron B, Dalbies F, Cador B, Guemann AS, Gaches F, Hivert B, Leguy-Seguin V, Masseau A, Deshayes R, Pers YM, Pettazzoni M, Bekri S, Caillaud C, Le Guillou E, Szymanowski M, Astudillo L, Mauhin W, Nadjar Y, Serratrice C, Berger MG, Camou F, Belmatoug N, Stirnemann J; French Evaluation of Gaucher Disease Treatment Committee. Nguyen Y, et al. Among authors: guemann as. J Inherit Metab Dis. 2025 May;48(3):e70037. doi: 10.1002/jimd.70037. J Inherit Metab Dis. 2025. PMID: 40348574 Free PMC article.
Autism spectrum disorders in propionic acidemia patients.
de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L. de la Bâtie CD, et al. Among authors: guemann as. J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30. J Inherit Metab Dis. 2018. PMID: 28856627
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: guemann as. 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.
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Legendre A, Khraiche D, Ou P, Mauvais FX, Madrange M, Guemann AS, Jais JP, Bonnet D, Hamel Y, de Lonlay P. Legendre A, et al. Among authors: guemann as. Mol Genet Metab. 2018 Mar;123(3):375-381. doi: 10.1016/j.ymgme.2017.12.429. Epub 2018 Jan 5. Mol Genet Metab. 2018. PMID: 29325813
When leukocytes bite off more than they can chew.
Dechaux-Blanc D, Zerimech F, Guemann AS, Duployez N, Fournier E. Dechaux-Blanc D, et al. Among authors: guemann as. Am J Hematol. 2020 Apr;95(4):447-448. doi: 10.1002/ajh.25720. Epub 2020 Jan 23. Am J Hematol. 2020. PMID: 31903643 Free article. No abstract available.
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M. Guemann AS, et al. Cardiol Young. 2015 Apr;25(4):712-7. doi: 10.1017/S1047951114000766. Epub 2014 Jun 16. Cardiol Young. 2015. PMID: 24932728
12 results