- ... Maple Syrup Urine Disease</see-reference><see-reference >Niemann-Pick Disease</see-reference><site ><information-category >Genetics</information-category><organization >National ...
- ... Metabolic, Inborn (National Institutes of Health) ClinicalTrials.gov: Niemann-Pick Diseases (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE C2; NPC2 Scientific Articles on PubMed PubMed References Gabande-Rodriguez E, Boya P, Labrador V, Dotti ...
- ... NPC2 Gene and Variant Databases NCBI Gene ClinVar References Chikh K, Vey S, Simonot C, Vanier MT, Millat G. Niemann-Pick type C disease: importance of N-glycosylation sites for function and ...
- ... This Health Condition Other Names for This Gene Niemann-Pick disease, type C1 NPC Additional ... References Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch ...
- ... Swelling of the liver and spleen Mental disability Niemann-Pick Disease Type A Niemann-Pick disease type A appears ... swollen joints more than usual treatment * 5 patients Niemann-Pick disease type A Did not appear to increase the ...
- ... and tissues. Health Conditions Related to Genetic Changes Niemann-Pick disease At least 175 mutations in the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann- ...
- ... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...
- ... help distinguish between them. Hepatosplenomegaly is observed in Niemann-Pick disease types A and B (see Acid Sphingomyelinase Deficiency ), Niemann-Pick disease type C , Wolman disease (lysosomal lipase deficiency), the ...
- ... Topic (National Library of Medicine) Also in Spanish Niemann-Pick Disease (National Institute of Neurological Disorders and Stroke) Also ... with myopathy: MedlinePlus Genetics (National Library of Medicine) Niemann-Pick disease: MedlinePlus Genetics (National Library of Medicine) Primary carnitine ...
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