31 results

... criteria, click here . MedlinePlus Niemann-Pick disease National Niemann-Pick Disease Foundation (NNPDF) Phone: 877-287-3672 Email: nnpdf@ ... 4718 Email: jewishgenetics@juf.org jewishgenetics.org International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...

... 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 ...

... storage disorders, including GM1 gangliosidoses, infantile Gaucher disease, Niemann-Pick disease type A, and galactosialidosis. Late-Onset Tay-Sachs ... Tay-Sachs with neuropsychiatric manifestation includes hepatolenticular degeneration, ... xanthomatosis, ceroid neuronal lipofuscinosis, metachromatic ...

... deficiency: Ketoacidosis Extremely elevated glycerol GK Glycerol kinase Niemann-Pick disease type B 4 (See Acid Sphingomyelinase Deficiency .) AR Growth restriction Hepatomegaly Hyperlipidemia In Niemann-Pick disease type B: Lack of fasting hypoglycemia Significant splenomegaly ...

... of the tonsils, hepatosplenomegaly, and peripheral neuropathy [18] Niemann-Pick disease: an autosomal recessive lysosomal disorder characterized by accumulation ...

... nephropathy Significant short stature SMPD1 Chronic visceral ASMD (Niemann-Pick disease type B) 2 (See ASM Deficiency .) AR Hepatomegaly ... of gluconeogenesis; others should also be considered. 2. Niemann-Pick disease type B and Gaucher disease are examples of ...

... chronic cholestasis, & end-stage liver disease. NPC1 NPC2 Niemann-Pick disease type C AR Manifestations in perinatal period & infancy ... control. This may require years of intensive therapy. Prevention of Primary Manifestations See Table 8 . Prevention of ...

... disease Cystine storage disease Juvenile Tay-Sachs disease Niemann-Pick disease Others Kawasaki disease Anorexia nervosa Post solid organ ... CW., American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee. Heart Disease ...