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Niemann-Pick Diseases (Niemann Pick Disease)

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Also Known As:
Niemann Pick Disease; ASM Deficiencies; ASM Deficient Niemann Pick Disease; ASM-Deficient Niemann-Pick Diseases; Acid Sphingomyelinase deficient Niemann Pick Disease; Deficiencies, ASM; Deficiencies, Acid Sphingomyelinase; Deficiency, ASM; Deficiency, Acid Sphingomyelinase; Disease, ASM-Deficient Niemann-Pick; Diseases, ASM-Deficient Niemann-Pick; Niemann Pick Diseases; Niemann-Pick Disease, ASM-Deficient; Niemann-Pick Diseases, ASM-Deficient; Sphingomyelinase Deficiencies, Acid; Sphingomyelinase Deficiency, Acid; ASM Deficiency; ASM-Deficient Niemann-Pick Disease; Acid Sphingomyelinase Deficiency; Acid Sphingomyelinase-deficient Niemann-Pick Disease; Niemann-Pick Disease
Networked: 570 relevant articles (12 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Atherosclerosis
2. Propionic Acidemia
3. Biliary Liver Cirrhosis (Primary Biliary Cirrhosis)
4. Fever (Fevers)
5. Crigler-Najjar Syndrome

Experts

1. Schuchman, Edward H: 41 articles (11/2020 - 05/2002)
2. Wasserstein, Melissa P: 14 articles (09/2021 - 07/2004)
3. Sandhoff, Konrad: 12 articles (08/2021 - 03/2003)
4. Muro, Silvia: 11 articles (04/2022 - 01/2006)
5. Thurberg, Beth L: 11 articles (01/2022 - 05/2009)
6. McGovern, Margaret M: 11 articles (01/2018 - 07/2002)
7. Schuchman, E H: 10 articles (01/2009 - 10/2000)
8. Giugliani, Roberto: 9 articles (01/2022 - 08/2004)
9. He, Xingxuan: 8 articles (07/2010 - 07/2002)
10. Breiden, Bernadette: 7 articles (08/2021 - 07/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Niemann-Pick Diseases:
1. Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
2. SphingomyelinsIBA
3. AcidsIBA
4. olipudase alfaIBA
5. LipidsIBA
6. neodymium pyrocatechin disulfonate (NPD)IBA
7. EnzymesIBA
8. CholesterolIBA
9. Biomarkers (Surrogate Marker)IBA
10. miglustat (Zavesca)FDA Link

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Therapeutics
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Subcutaneous Infusions
5. Liver Transplantation