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Genetic Brain Disorders
National Library of Medicine — prion disease mucolipidosis type IV galactosialidosis You may also search Genetics Home Reference for "Genetic Brain Disorders" for additional information.More…
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GARD Rare Diseases Information Center
Welcome to the Genetic and Rare Diseases Information Center (GARD), a collaborative effort of two agencies of the National Institutes of Health, The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) ...More…
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"Niemann-Pick Diseases"
Clinical Trials — Open Studies / "Niemann-Pick Diseases" Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Hurler's Syndrome; Maroteaux ...More…
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"Brain Diseases, Metabolic, Inborn"
Clinical Trials — Pompe Disease; Glycogen Storage Disease Type II (GSD II); Glycogenesis 2 Acid Maltase Deficiency Biological: Alglucosidase alfa; Biological: Alglucosidase alfa A Study of the Effects of Fabrazyme on Mother's Lactation and on the Growth, ...More…
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Publicaciones Más Descargados
NINDS Espanol — La misión de NINDS es reducir la carga de los trastornos neurológicos-- una carga que puede afectar a personas de todas las edades, cada segmento de la sociedad y de todo el mundo. Leer Más . Para avanzar en la investigación médica y encontrar ...More…
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Protect your skin when you're out in the sun. Learn more
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ...More…
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Protect your skin when you're out in the sun. Learn more
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ...More…
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Disease Overview
The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the National Niemann-Pick Disease ...More…
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Galactosemia
Liver Foundation — Galactosemia, Pediatric Liver Disease, Genetic Disorders, Nutrition Explore this section to learn more about Galactosemia, including a description of the disease and how it's diagnosed. Galactosemia is an inherited disorder that prevents a person ...More…
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Featured Links:
The National Niemann-Pick Disease Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease, and we provide support services for individuals and families affected by NPD. The National ...More…
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Menkes syndrome
National Library of Medicine — Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs ...More…
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Lesch-Nyhan syndrome
National Library of Medicine — Lesch-Nyhan syndrome is a condition characterized by the overproduction and accumulation of uric acid, a waste product of normal chemical processes that is found in blood and urine. The overproduction of uric acid can cause gouty arthritis ...More…