- ceroid storage disease
- Zeroidspeicherkrankheit f
Fachwörterbuch Medizin Englisch-Deutsch. 2013.
Fachwörterbuch Medizin Englisch-Deutsch. 2013.
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
Disease, delta-storage pool — A genetic (inherited) disorder, also known as the Hermansky Pudlak syndrome (HPS), characterized by albinism (with lack of skin and eye pigment), bruising and prolonged bleeding (due to defective blood platelets), and fibrosis of the lungs. In… … Medical dictionary
Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 … Wikipedia
Batten disease — Infobox Disease Name = Batten disease Caption = DiseasesDB = 31534 ICD10 = ICD10|E|75|4|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 204200 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009472 Batten disease is a rare, fatal, autosomal… … Wikipedia
Delta-storage pool disease — A genetic (inherited) disorder, also known as the Hermansky Pudlak syndrome (HPS), characterized by albinism (with lack of skin and eye pigment), bruising and prolonged bleeding (due to defective blood platelets), and fibrosis of the lungs. In… … Medical dictionary
Kufs disease — the adult form of neuronal ceroid lipofuscinosis, beginning usually before the age of 40 and characterized by progressive neurologic degeneration, excessive storage of lipofuscin in the central nervous system, and shortened life expectancy.… … Medical dictionary
Haltia-Santavuori disease — a rare infantile form of neuronal ceroid lipofuscinosis, beginning about one year of age, with excessive storage of lipofuscin, failure to thrive, myoclonic seizures, muscular hypotonia, psychomotor developmental delay and deterioration,… … Medical dictionary
Vogt-Spielmeyer disease — the juvenile form of neuronal ceroid lipofuscinosis with onset between 5 and 10 years of age, characterized by rapid cerebroretinal degeneration, massive loss of brain substance, excessive neuronal storage of lipofuscin, and death within 10 to 15 … Medical dictionary
CLN6 — Ceroid lipofuscinosis, neuronal 6, late infantile, variant, also known as CLN6, is a human gene.cite web | title = Entrez Gene: CLN6 ceroid lipofuscinosis, neuronal 6, late infantile, variant| url =… … Wikipedia
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
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