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Page 1
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F. Ferreira CR, et al. Among authors: mughal mz. J Bone Miner Res. 2021 Nov;36(11):2193-2202. doi: 10.1002/jbmr.4418. Epub 2021 Aug 16. J Bone Miner Res. 2021. PMID: 34355424 Free PMC article.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Among authors: mughal mz. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Suntharesan J, Agarwal U, Lim J, Collingwood C, Avula S, Mughal MZ, Nitschke Y, Botschen U, Rutsch F, Ramakrishnan R. Suntharesan J, et al. Among authors: mughal mz. Calcif Tissue Int. 2022 Dec;111(6):646-652. doi: 10.1007/s00223-022-01026-3. Epub 2022 Oct 11. Calcif Tissue Int. 2022. PMID: 36220940
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: mughal mz. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 Free PMC article.
Short report: craniosynostosis, a late complication of nutritional rickets.
Forestier-Zhang LY, Arundel P, Gilbey-Cross R, Mughal MZ, Offiah AC, Cheung MS. Forestier-Zhang LY, et al. Among authors: mughal mz. J Pediatr Endocrinol Metab. 2021 Apr 16;34(8):1055-1060. doi: 10.1515/jpem-2020-0580. Print 2021 Aug 26. J Pediatr Endocrinol Metab. 2021. PMID: 33866705 Free article.
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Brandi ML, et al. Among authors: mughal mz. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022. Ther Adv Chronic Dis. 2022. PMID: 36082134 Free PMC article.
149 results