The journal Annals of Dermatology has published an article about Morgellons Disease. Morgellons disease is a rare disease with unknown etiology. The full-text story you can find here.
The journal Molecular Therapy has published an article about lysosomal storage disorders. Lysosomal storage disorders (LSDs) are a broad class of monogenic diseases with an overall incidence of 1:7,000 newborns, due to the defective activity of one or more lysosomal hydrolases or related proteins resulting in storage of un-degraded substrates in the lysosomes. The full-text article you can read here.
The journal Molecular Genetics and Metabolism has published an article about Muchopolysaccharidosis Type I. The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. The full-text article you can find here.
The journal BMC Medical Informatics and Decision Making has published an article about аlkaptonuria. Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. The full-text article you can find here.
The journal Developments in Ophthalmology has published an article about retinitis pigmentosa. Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The full-text article you can find here.
The journal Wien Med Wochenschr has published an article about relapsing polychondritis. Relapsing polychondritis (RPC) is a rare disease with recurrent episodes of inflammation of cartilage tissue leading to fibrosis and organ damage. Despite unknown etiology, there is some evidence of a genetic predisposition. The full-text article you can find here.
The journal “Blood Cells, Molecules and Diseases” has published an article about paroxysmal nocturnal hemoglobinuria. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. The full-text article you can find here.
The journal Klinische Monatsblätter für Augenheilkunde has published an article about inherited retinal dystrophies. Characteristics of inherited retinal dystrophies include deficiencies in light perception and nervous conduction within the retina, leading to reduced vision or even blindness. In this context, the loss of function of photoreceptor-specific genes causes a variety of clinically and aetiologically distinct syndromes – each of them belonging to the group of rare diseases. The full-text article you can find here.
The Journal of Medical Biochemistry has published an article about inborn errors of metabolism. Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. The full-text article you can read here.
The Journal of Human Genetics has published an article about Gaucher disease. Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. The full-text article you can find here.