Translation: from english

Deficiency, sphingomyelinase

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  • Deficiency, sphingomyelinase — Also called Niemann Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), swollen glands… …   Medical dictionary

  • Sphingomyelinase deficiency — Also called Niemann Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), swollen glands… …   Medical dictionary

  • sphingomyelinase — SYN: sphingomyelin phosphodiesterase. * * * sphin·go·my·elin·ase mī ə lə .nās, .nāz n any of several enzymes that catalyze the hydrolysis of sphingomyelin and are lacking in some metabolic deficiency diseases (as Niemann Pick disease) in which… …   Medical dictionary

  • Niemann-Pick disease, SMPD1-associated — Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 …   Wikipedia

  • Lysosomale Speicherkrankheiten — (LSK) sind eine Gruppe von etwa 45 genetisch bedingten Stoffwechselerkrankungen, die durch Fehlfunktionen im Lysosom ausgelöst werden. Die Erkrankungen sind monogenetisch.[1] In der angelsächsischen Fachliteratur wird meist der Begriff Lysosomal… …   Deutsch Wikipedia

  • Niemann–Pick disease — Niemann Pick disease Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 …   Wikipedia

  • Sphingomyelin phosphodiesterase 1 — Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase), also known as SMPD1, is a human sphingomyelin phosphodiesterase.cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid… …   Wikipedia

  • Niemann-Pick disease — Infobox Disease Name = Niemann Pick disease Caption = DiseasesDB = ICD10 = ICD10|E|75|2|e|70 (ILDS E75.230) ICD9 = ICD9|272.7 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009542 Niemann Pick Disease is one of a group of… …   Wikipedia

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Lysosomale Speicherkrankheit — Lysosomale Speicherkrankheiten (LSK) sind eine Gruppe von etwa 45 genetisch bedingten Stoffwechselerkrankungen, die durch Fehlfunktionen im Lysosom ausgelöst werden. Die Erkrankungen sind monogenetisch.[1] In der angelsächsischen Fachliteratur… …   Deutsch Wikipedia

  • Sphingomyelin — Sphingomyelin(SPH) is a type of sphingolipid found in animal cell membranes, especially in the membranous myelin sheath which surrounds some nerve cell axons. It usually consists of phosphorylcholine and ceramide. In humans SPH represents 85% of… …   Wikipedia


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