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Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es un trastorno que afecta a los niveles de cobre en el cuerpo Se caracteriza por cabello ralo y ensortijado; retraso del crecimiento; y deterioro progresivo del sistema nervioso
Zellweger spectrum disorders | About the Disease | GARD Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities Affected children also develop life-threatening problems
Genetic and Rare Diseases Information Center | GARD The mission of the Genetic and Rare Diseases (GARD) Information Center is to help the rare disease community meet these common challenges We do this by providing free access to reliable and easy-to-understand information We support the rare disease community both through our website and through the dedicated Information Specialists in our Contact Center
Wilson disease | About the Disease | GARD - Genetic and Rare Diseases . . . Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances It
Hennekam syndrome | About the Disease | GARD - Genetic and Rare . . . Hennekam syndrome is a rare condition that affects the lymphatic system Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i e a flattened appearance
Shprintzen-Goldberg syndrome | About the Disease | GARD Shprintzen-Goldberg syndrome is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these
Pyoderma gangrenosum | About the Disease | GARD Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy