information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi syndrome. Click on, , frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Isolated FS may be caused by genetic variants ...
European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. GARD Answers GARD Answers Listen Questions sent to GARD may be posted here if the, ? Contact a GARD Information Specialist. References References Rajabally YA, Knopp MJ, Martin-Lamb D, Morlese J. Diagnostic value of MR imaging in the Lewis-Sumner syndrome: a case series. Journal of the ...
to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable, enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a ...
reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss, : Bean syndrome; Blue rubber bleb nevus; BRBNS Categories: Blood Diseases; Congenital and Genetic Diseases; Heart Diseases; Blood Diseases; Congenital and Genetic Diseases; Heart Diseases; Rare Cancers ...
diseases and conditions and the preservation of eye health. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy, . In rare cases, vision impairment may be severe.[1][3] In most cases, the disorder resolves within a few weeks without permanent loss of visual acuity. However, in some cases, visual acuity does not ...
world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan, -health-and-diseases/lung-disease-lookup/boop/. Accessed 2/16/2016. Do you know of a review article? We want to hear from you. You can help advance rare disease research! You can help advance rare disease ...
: Spasmodic torticollis Categories: Musculoskeletal Diseases; RDCRN Summary Summary Listen Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and, of the basal ganglia).[5] Last updated: 4/4/2017 Do you have updated information on this disease? We want to hear from you. Research Research Listen Research helps us better understand diseases and can ...
Other Names: OPTB5; Autosomal recessive osteopetrosis type 5; Osteopetrosis infantile malignant 3 Categories: Congenital and Genetic Diseases Summary Summary Listen Osteopetrosis refers to a group of rare, on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems.[1 ...
taking calcium supplements to increase the level of calcium in the body. Vitamin D supplements also indirectly work to increase calcium levels in the body because vitamin D improves the absorption of, individuals with rare diseases and the organizations that serve them. In-Depth Information Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but ...
health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs, -deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome Categories: Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic ...
