result of improved technologies and detection.[2][1] Last updated: 3/10/2014 Research Research Listen Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This, . J Ultrasound Med. 2007 Mar; 26(3):361-5. http://www.ncbi.nlm.nih.gov/pubmed/17324986. Accessed 3/10/2014. Do you know of a review article? We want to hear from you. You can help advance rare disease ...
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 3-methylcrotonyl-CoA, deficiency. STAR-G. August 2013; http://www.newbornscreening.info/Parents/organicaciddisorders/3MCC.html. Do you know of a review article? We want to hear from you. You can help advance rare disease research ...
; Musculoskeletal Diseases Summary Summary Listen Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and, ://rarediseases.org/rare-diseases/schnitzler-syndrome/. Paul Jarrett, MD. Schnitzler syndrome. DermNet NZ. May 2015; http://www.dermnetnz.org/systemic/schnitzler.html. Do you know of a review article? We want to hear ...
(phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health, articles. It is meant for 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 ...
symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. Signs and symptoms of Buschke-Ollendorff, ) Melorheostosis is a rare finding in BOS that can cause bone pain, joint contractures, and abnormal bone growth. Other rare complications of BOS include spinal stenosis, hearing loss, and short stature. The first ...
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 Albright's hereditary, Genetic Diseases Subtypes: Pseudohypoparathyroidism type 1A; Pseudohypoparathyroidism type 1C; Pseudopseudohypoparathyroidism Summary Summary Listen Albright's hereditary osteodystrophy (AHO) is a rare ...
Genetic Diseases; Musculoskeletal Diseases Summary Summary Listen Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face, 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 ...
; Musculoskeletal Diseases See More Summary Summary Listen Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features, 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 Femoral facial syndrome ...
maintained by Johns Hopkins University School of Medicine. 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, designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. The National Organization for Rare Disorders (NORD) has a report ...
Amyloidosis AA Title Other Names: Amyloid A amyloidosis; AA Amyloidosis Categories: Immune System Diseases Summary Summary Listen Amyloidosis is a group of diseases in which a protein, called amyloid, forms of amyloidosis. 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 lead to advances in diagnosis ...
