by Remember The Girls | Oct 31, 2022
Back to Previous Creatine Transporter Deficiency Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism. The onset of symptoms occurs during infancy, but the average age of diagnosis ranges from 2 to 66 years of age. Since the disease is now...
by Remember The Girls | Oct 4, 2022
Back to Previous Dent Disease Dent disease is a rare genetic kidney disorder characterized by spillage of small proteins in the urine, increased levels of calcium in the urine, kidney calcifications (nephrocalcinosis), recurrent episodes of kidney stones...
by Remember The Girls | Oct 4, 2022
Back to Previous Dilated Cardiomyopathy (X-Linked) X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne...
by Remember The Girls | Oct 4, 2022
Back to Previous Dyskeratosis Congenita Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita...
by Remember The Girls | Oct 1, 2022
Back to Previous Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six...
