- ... B usually survive into adulthood. The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 ... although signs and symptoms can develop at any time. People with these ...
- ... adulthood.</html:p><html:p >The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 ... although signs and symptoms can develop at any time. People with these ...
- ... swollen joints more than usual treatment * 5 patients Niemann-Pick disease type A Did not appear to increase the chance of surviving when compared with only treating symptoms to make the child more comfortable 3 patients ...
- ... to be associated with mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of ...
- ... system and breathing. Each one can cause different symptoms and may occur at different times throughout life. ... provider if you have a family history of Niemann-Pick disease and you plan to ... of this disease, including: Developmental problems Feeding problems ...
- Genetic brain disorders affect the development and function of the brain. Some are inherited, some are caused by exposure, and others are both. ... A genetic ...
- NLM Digital Collections - Tangier Disease: Tonsils May Cure HeartsPublication: Interactive Media, [1967]... rare fat storage disorders are studied. The tentative diagnosis was Niemann-Pick Disease. “One doctor said Teddy couldn’t live much ... was really getting on edge.” NAMED FOR ISLAND : Niemann-Pick Disease is ... include malnutrition, stomach and intestinal disturbances, and abnormalities ...
- NLM Digital Collections - Rare diseases. Although limited, available evidence suggests medical and other costs can be ...Publication: Washington, DC : United States Government Accountability Office, October 2021... varies among those affected; treatment is aimed at symptom management. Niemann-Pick disease type A is an inherited disease in which ...
- NLM Digital Collections - Annual report - National Eye Institute (1984)Publication: [Bethesda, Md.] : National Eye Institute... and Gregg RE: Macula halo syndrome, variant of Niemann-Pick disease. Arch Ophthamol 101:1698, 1983. Cogan DG, and Chu FC: Supranuclear ocular motor symptoms in metabolic disease. Trans. Fifth Meeting Int'l ...
- NLM Digital Collections - Phenotyping: On Reaching Base Camp (1950-1975)Publication: American Heart Association, April 1993... literature in preparation for my definitive chapter on Niemann-Pick disease in the MBID allowed me to assert that the diagnosis was incorrect. The patient’s plasma cholesterol level was ...
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