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Year Number of Results
2006 1
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93 results

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Page 1
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.
Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML. Khan AA, et al. Among authors: khan a. J Clin Endocrinol Metab. 2025 Apr 17:dgaf170. doi: 10.1210/clinem/dgaf170. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40243526
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M. Jové-Solavera D, et al. Among authors: khan a. Sci Rep. 2025 Apr 7;15(1):11843. doi: 10.1038/s41598-025-95590-x. Sci Rep. 2025. PMID: 40195342 Free PMC article.
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults.
Ali DS, Khan AA, Mirza RD, Appelman-Dijkstra NM, Brandi ML, Carpenter TO, Chaussain C, Imel EA, de Beur SMJ, Florenzano P, Morrison A, Alrob HA, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Morgante E, Portale AA, Rhee Y, Siggelkow H, Tosi L, Ward LM, Guyatt G. Ali DS, et al. Among authors: khan a. J Bone Miner Metab. 2025 Mar 21. doi: 10.1007/s00774-025-01585-z. Online ahead of print. J Bone Miner Metab. 2025. PMID: 40119067
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.
Ali DS, Carpenter TO, Imel EA, Ward LM, Appelman-Dijkstra NM, Chaussain C, de Beur SMJ, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rao C, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi ML, Khan AA. Ali DS, et al. Among authors: khan a. J Clin Endocrinol Metab. 2025 Feb 17:dgaf093. doi: 10.1210/clinem/dgaf093. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39960858
Arrhythmia as a Presenting Feature of Atypical Cardiac Rhabdomyoma in Children.
Irabor B, Khan A, Noga M, Myers K, Greenway SC, Hassanabad AF. Irabor B, et al. Among authors: khan a. CJC Pediatr Congenit Heart Dis. 2024 Feb 18;3(3):125-128. doi: 10.1016/j.cjcpc.2024.02.002. eCollection 2024 Jun. CJC Pediatr Congenit Heart Dis. 2024. PMID: 39070959 Free PMC article. No abstract available.
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA, Sunder-Plassmann G, Jovanovic A, Brand E, West ML, Bichet DG, Pisani A, Nowak A, Torra R, Khan A, Azevedo O, Lehman A, Linhart A, Rutecki J, Giuliano JD, Krusinska E, Nordbeck P. Hughes DA, et al. Among authors: khan a. J Inherit Metab Dis. 2025 Jan;48(1):e12771. doi: 10.1002/jimd.12771. Epub 2024 Jul 19. J Inherit Metab Dis. 2025. PMID: 39031114 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: khan a. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
93 results