Niemann-Pick disease


Also found in: Dictionary, Medical, Legal, Encyclopedia, Wikipedia.
Related to Niemann-Pick disease: Tay-Sachs disease, Gaucher disease
Graphic Thesaurus  🔍
Display ON
Animation ON
Legend
Synonym
Antonym
Related
  • noun

Words related to Niemann-Pick disease

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

References in periodicals archive ?
DISCUSSION: Albert Niemann published the first description of what is now known as Niemann-Pick disease, type A, in 1914.
As storage cells were observed in the bone marrow aspiration specimen and lysosomal sphingomyelinase activity was low, the patient was diagnosed with Niemann-Pick disease.
Examples include albinism, congenital adrenal hyperplasia, erythropoietic protoporphyria, Fabry's disease, familial basal ganglia calcification, G6PD deficiency, Gaucher's disease, hemochromatosis, Huntington's chorea, hyperasparaginism, ichthyosis vulgaris, Kartagener's syndrome, Klinefelter's syndrome (karyotype 47,XXY), metachromatic leukodystrophy, Niemann-Pick disease, phenylketonuria, acute intermittent porphyria, Turner's syndrome, and Wilson's disease.
Unless someone close to you has been diagnosed with Niemann-Pick Disease (NPD), you probably haven't heard of this rare set of genetic pediatric disorders that typically affect children of elementary school age.
Viv Watts, organiser from the Children's Hope Foundation, one of the beneficiaries of the event along with the Sunshine Fund, Just for Kids and the Niemann-Pick Disease Group, said: "We have had thunderstorms and torrential rain all day and have been unable to get the electrics sorted in time for Julian's performance.
Liverpool Crown Court heard she had been diagnosed with life-limiting Niemann-Pick disease and a condition called Cerebellar Atrophy.
The benefits of the deal include Sucampo having access to VTS-270, which is in a pivotal study for the treatment of Niemann-Pick Disease Type C1; it builds on Sucampo's capabilities, global development platform and focus on specialised areas of high, unmet medical need; it provides for a fully-enrolled global pivotal clinical trial with results expected in mid-2018; Sucampo provides capabilities and resources to accelerate the global development and potential commercialisation of VTS-270; it contributes to Sucampo's goal of building an increasingly diversified, global biopharmaceutical company; the product is expected to be launched and accretive to earnings beginning in 2019 and the Vtesse team will continue to support the advancement of VTS-270.
The funding reinforces the early-stage drug developer's efforts to develop treatments for Niemann-Pick Disease Type C, or NPC, a rare disorder that effects the way the body processes cholesterol.
Lipid storage disorders associated with hepatomegaly and splenomegaly in the first few months of life include GM1-gangliosidosis type I, Gaucher disease, and Niemann-Pick disease [7].
LEAH'S DREAM, ITV1, Tuesday, 9pm: Leah Garfitt is nine and one of only 500 children in the world with Niemann-Pick Disease, which will eventually kill her.
The rare condition, Niemann-Pick disease, type C, will gradually rob her of the ability to talk and walk - and will shorten her life.
Dietschy cautioned that the findings in no way represent a Niemann-Pick disease cure.
Little Lucy Mathieson, four, died four years after being diagnosed with terminal Niemann-Pick disease type C at just five weeks old.