Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Introduction Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by an inherited deficiency of lysosomal α-galactosidase A, resulting from mutations in the GLA gene (1). This deficiency causes a progressive, systemic accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosylsphingosine (Lyso-Gb3), within lysosomes in various tissues, with a particularly pronounced impact on the vascular system (2).
Most children born SGA achieve catch-up growth within 4 or more years. Up to 90% of children born SGA experiences acceleration of linear growth during the first 12 months of life, reaching a height of -2 SDS or more within 2 years of birth; however, those who fail to achieve catch-up growth may be eligible for GH therapy regardless of GHD.
Human Genomics, May 2023 This is a preview of a remote PDF: https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-023-00491-7 Shin, Unbeom, Choi, Yeonsong, Ko, Hwa Soo, Myung, Kyungjae, Lee, Semin, Cheon, Chong Kun, Lee, Yoonsung. , Human Genomics, 2023, pp. 1-15, Volume 17, Issue 1, DOI: 10.1186/s40246-023-00491-7
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
