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134 results

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Page 1
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Among authors: lopez ag. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Klopstock T, Mercimek-Andrews S, Jurecka A, Wood P, Cwyl M, Klucken A, López A, Scalise R, Valle A, Mollet F, Perez-Duenas B, Skowronska M, Chroscinska-Krawczyk M, Escolar ML, Wade A, Rintell D. Klopstock T, et al. Orphanet J Rare Dis. 2023 Aug 31;18(1):257. doi: 10.1186/s13023-023-02869-1. Orphanet J Rare Dis. 2023. PMID: 37653408 Free PMC article.
Left Ventricular Hypertrophy in Women With a History of Preeclampsia.
Hauge MG, Damm P, Kofoed KF, Møller ELR, Lopez AG, Ersbøll AS, Johansen M, Sigvardsen PE, Pham MHC, Goetze JP, Fuchs A, Kühl JT, Nordestgaard BG, Køber LV, Gustafsson F, Linde JJ. Hauge MG, et al. Among authors: lopez ag. Hypertension. 2024 Nov 14. doi: 10.1161/HYPERTENSIONAHA.124.23497. Online ahead of print. Hypertension. 2024. PMID: 39540300
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Young Athlete With Hypertension and Hypokalemia.
Lopez AG, Guerrot D. Lopez AG, et al. Hypertension. 2024 Nov;81(11):2203-2208. doi: 10.1161/HYPERTENSIONAHA.124.23348. Epub 2024 Oct 16. Hypertension. 2024. PMID: 39413202
Serum levels of the incretin-like peptide 26RFa are diminished in women living with obesity and diabetes and restored after sleeve gastrectomy: Results from the prospective pilot RFa-Ba-S study.
Khiar H, Lévêque E, Lopez AG, Moreau-Grangé L, Richard L, Brunel V, Perdrix A, Takhlidjt S, Devère M, Tavolacci MP, Houivet E, Huet E, Degrimaudet B, Travers C, Leprince J, Picot M, Chartrel N, Prévost G. Khiar H, et al. Among authors: lopez ag. Diabetes Obes Metab. 2024 Dec;26(12):5556-5568. doi: 10.1111/dom.15871. Epub 2024 Sep 30. Diabetes Obes Metab. 2024. PMID: 39350486
Aberrant hormone receptors regulate a wide spectrum of endocrine tumors.
Lacroix A, Bourdeau I, Chasseloup F, Kamenický P, Lopez AG, Louiset E, Lefebvre H. Lacroix A, et al. Among authors: lopez ag. Lancet Diabetes Endocrinol. 2024 Nov;12(11):837-855. doi: 10.1016/S2213-8587(24)00200-6. Epub 2024 Sep 23. Lancet Diabetes Endocrinol. 2024. PMID: 39326429 Review.
134 results