Rare diseases

Results: 4095



#Item
41Health / Medicine / Rare diseases / Clinical medicine / Malonyl-CoA decarboxylase deficiency / Glutaric aciduria type 1 / Isobutyryl-coenzyme A dehydrogenase deficiency / Isovaleric acidemia / Inborn error of metabolism / Hyperammonemia / 2-Methylbutyryl-CoA dehydrogenase deficiency / Newborn screening

IMD Program List of Disorders, Covered Drugs, Supplements and Specialty Foods

Add to Reading List

Source URL: www.health.gov.on.ca

Language: English - Date: 2016-03-07 08:48:57
42Medicine / Clinical medicine / Health / Neurological disorders / Medical signs / Rare diseases / Vestibular system / Balance disorder / Electronystagmography / Vestibular evoked myogenic potential / Vertigo / Nystagmus

This article appeared in a journal published by Elsevier. The attached copy is furnished to the author for internal non-commercial research and education use, including for instruction at the authors institution and shar

Add to Reading List

Source URL: earandbalance.net

Language: English - Date: 2014-07-22 10:46:57
43Medicine / Health / Nutrition / Vitamin D / Electrolyte disturbances / Rare diseases / Skeletal disorders / Solute carrier family / Autosomal dominant hypophosphatemic rickets / Fibroblast growth factor 23 / SLC34A3 / Hypophosphatemia

NIH Public Access Author Manuscript Bone. Author manuscript; available in PMC 2013 May 1. NIH-PA Author Manuscript

Add to Reading List

Source URL: www.ncbi.nlm.nih.gov

Language: English
44Health / Medicine / Medical ethics / Patient advocacy / European Organisation for Rare Diseases / Patient safety / European Union law / European Union / European Public Health Alliance / Rare disease / Patient participation / Standing Committee of European Doctors

Aida Barquero works for Fundación Ciudadanía, a Spanish NGO that aims to promote active citizenship and the participation of citizens in public life and policy-making, especially in Europe. Sonia Belfiore works for Act

Add to Reading List

Source URL: www.activecitizenship.net

Language: English - Date: 2016-03-24 04:30:05
45Medicine / Health / Microbiology / RTT / Pediatrics / Epidemiology / Infectious diseases / Rare diseases / Meningococcal disease / Scarlet fever / Chickenpox / Transmission

Communicable Disease Reference Chart for School Personnel DISEASE Chickenpox* (Varicella) INCUBATION PERIOD

Add to Reading List

Source URL: www.vdh.virginia.gov

Language: English - Date: 2016-04-13 09:09:15
46Medicine / Clinical medicine / Health / RTT / Congenital heart disease / Syndromes / Congenital disorder / Developmental biology / Rare diseases / Imperforate anus / Congenital heart defect / Choanal atresia

Data Dictionary for the Birth Defect File The birth defects file contains the number of children born fromalong with the number of children with one or more of the congenital malformations listed in table 1. T

Add to Reading List

Source URL: www.satscan.org

Language: English - Date: 2016-05-18 11:19:41
47Health / Medicine / Clinical medicine / Rare diseases / Pediatrics / Epidemiology / Neonatology / Newborn screening / Medical tests / Cystic fibrosis / Screening

Swiss Public Health Conference, Lausanne || 30 AugustNewborn Screening for Cystic Fibrosis in Switzerland Evaluation after 1 year CS Rueegg1, T Torresani2, M Baumgartner2, S Gallati3, MH Schoeni, CE Kuehni1, J Bar

Add to Reading List

Source URL: sph12.organizers-congress.ch

Language: English - Date: 2012-09-04 04:29:23
48Medicine / Clinical medicine / Health / Chromosomal abnormalities / Syndromes / Genodermatoses / Rare diseases / Cytogenetics / Aneuploidy / Prenatal diagnosis / DiGeorge syndrome / Nuchal scan

® What is NACE Plus ? NACE Plus® has the same characteristics as the NACE® test , but is an extended version that also incorporates the detection of chromosome 9 and 16 trisomies, which are closely related with

Add to Reading List

Source URL: www.igenomix.ae

Language: English - Date: 2015-02-24 12:47:41
49Medicine / Anatomy / Blood / Coagulation system / Acquired hemolytic anemia / Blood disorders / Rare diseases / Hemolytic-uremic syndrome / Nephrology / Thrombotic thrombocytopenic purpura / Thrombotic microangiopathy / Von Willebrand factor

IP Internship project 7: Detailed characterisation of the molecular interaction between complement factor H (FH) and von Willebrand factor (VWF) Description Hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic

Add to Reading List

Source URL: www.sanquin.nl

Language: English - Date: 2015-11-10 06:17:54
50National Institutes of Health / Rare diseases / Health / RDCRN Contact Registry / Rare Diseases Clinical Research Network / Draft:Alexandros Makriyannis

Rare Diseases Clinical Research Network (RDCRN) Publications Updated: August 1, 2016 RDCRN Data Management and Coordinating Center Publications DMCC Publications

Add to Reading List

Source URL: www.rarediseasesnetwork.org

Language: English - Date: 2016-08-05 12:49:27
UPDATE