Biomaterial Database

Niemann-Pick disease: report of a case with skin involvement. 1982

M K Mardini, and P Gergen, and M Akhtar, and M Ghandour

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D009542	Niemann-Pick Diseases	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.	ASM Deficiency,ASM-Deficient Niemann-Pick Disease,Acid Sphingomyelinase Deficiency,Acid Sphingomyelinase-deficient Niemann-Pick Disease,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 Disease,Niemann Pick Diseases,Niemann-Pick Disease, ASM-Deficient,Niemann-Pick Diseases, ASM-Deficient,Sphingomyelinase Deficiencies, Acid,Sphingomyelinase Deficiency, Acid
D010859	Pigmentation Disorders	Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.	Incontinentia Pigmenti Achromians,Ito Syndrome,Schamberg's Disease,Schamberg Disease,Disease, Schamberg,Disease, Schamberg's,Disorder, Pigmentation,Disorders, Pigmentation,Pigmentation Disorder,Schambergs Disease,Syndrome, Ito
D002610	Cheek	The part of the face that is below the eye and to the side of the nose and mouth.	Bucca,Buccas,Cheeks
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.