UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. HIV関連リポジストロフィーの治療 treatment of hiv associated lipodystrophy
2. HIV関連リポジストロフィーの疫学、臨床症状、および診断 epidemiology clinical manifestations and diagnosis of hiv associated lipodystrophy
3. 脂肪異栄養症症候群 lipodystrophic syndromes
4. 注入可能軟部組織充填剤：臨床的使用の概要 injectable soft tissue fillers overview of clinical use
5. 注入可能軟部組織充填剤：半永久的に有効な充填剤 injectable soft tissue fillers semipermanent agents

「スフィンゴリピドーシス」

Disease	Enzyme Deficiency	Lipid Accumulating	Clinical Symptoms
Tay-Sachs disease	Hexosaminidase A	Cer-Glc-Gal(NeuAc)-: : GalNAc GM2 Ganglioside	Mental retardation, blindness, muscular weakness.
Fabry's disease	α-Galactosidase	Cer-Glc-Gal-: : Gal Globotriaosylceramide	Skin rash, kidney failure (full symptoms only in males; X-linked recessive).
Metachromatic leukodystrophy	Arylsulfatase A	Cer-Gal-: : OSO3 3-Sulfogalactosylceramide	Mental retardation and psychologic disturbances in adults; demyelination.
Krabbe's disease	β-Galactosidase	Cer-: : Gal Galactosylceramide	Mental retardation; myelin almost absent.
Gaucher's disease	β-Glucosidase	Cer-: : Glc Glucosylceramide	Enlarged liver and spleen, erosion of long bones, mental retardation in infants.
Niemann-Pick disease	Sphingomyelinase	Cer-: : P-choline Sphingomyelin	Enlarged liver and spleen, mental retardation; fatal in early life.
Farber's disease	Ceramidase	Acyl-: : Sphingosine Ceramide	Hoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life.