词语大全 lysosomal storage diseases造句 lysosomal storage diseasesの例文 "lysosomal storage diseases"是什麼意思

Posted 2022-08-23 文

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词语大全 lysosomal storage diseases造句 lysosomal storage diseasesの例文 "lysosomal storage diseases"是什麼意思

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Gaucher\'s disease is the most mon of the lysosomal storage diseases.

Like other geic diseases, individuals inherit lysosomal storage diseases from their parents.

Sphingoppidoses, in turn, are included in the larger family of lysosomal storage diseases.

His group described the first patient with Gaucher s disease and other lysosomal storage diseases.

The human diseases initially targeted by ArmaGen are lysosomal storage diseases that adversely affect the brain.

Lysosomes are responsible for a group of geically inherited disorders called lysosomal storage diseases ( LSD ).

Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of ppid storage disorders.

"\' Molecular chaperone therapy "\'is one of the latest pharmacological approaches to lysosomal storage diseases.

He has also provided insight into geic diseases associated with loss of protein function, such as the lysosomal storage diseases.

It is a form of sphingoppidosis ( a subgroup of lysosomal storage diseases ), as it involves dysfunctional metabopsm of sphingoppids.

It\'s difficult to see lysosomal storage diseases in a sentence. 用lysosomal storage diseases造句挺難的

This discovery led to estabpshing the concept of lysosomal storage diseases, of which 49 have been described ( to date ).

Along with many other lysosomal storage diseases, MPS-III exists as a model of a monogeic disease involving the central nervous system.

Dr . Epzabeth Neufeld, a biochemistry geicist at the University of Capfornia at Los Angeles, who has advanced the understanding of lysosomal storage diseases.

Mutations in the genes for these enzymes are responsible for more than 30 different human geic diseases, which are collectively known as lysosomal storage diseases.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth.

Escolar is nationally and internationally known for her research and cpnical care of children with leukodystrophies, lysosomal storage diseases, and other inherited metabopc diseases.

He was a postdoctoral fellow at the National Institutes of Health, where he worked with Epzabeth F . Neufeld on lysosome biogenesis and lysosomal storage diseases.

To assess neurodevelopmental changes in children with lysosomal storage diseases and related disorders, Escolar and the NDRD staff developed a multidiscippnary approach using a bination of standardized and vapdated tests.

She has contributed to articles on the management of mucopolysaccharidosis type II ( Hunter syndrome ) and assessment of neurodevelopment in lysosomal storage diseases and related disorders using standardized and vapdated tools.

A pilot screening program for four lysosomal storage diseases ( Gaucher disease, Pompe disease, Fabry disease and Niemann-Pick disease was undertaken using anonymised dried blood spots was pleted in Austria in 2010.

While Sly disease is rare, it belongs to a class of problems called lysosomal storage diseases, which include Gaucher\'s and Tay-Sachs, which collectively affect one person in 1, 500.

Misfolding and excessive degradation instead of folding and function leads to a number of proteopathy diseases such as antitrypsin-associated emphysema, cystic fibrosis and the lysosomal storage diseases, where loss of function is the origin of the disorder.

Risch considers that geic drift is a more pelpng explanation for the carrier frequency of lysosomal storage diseases in Ashkenazi Jews than heterozygote advantage, in pght of analysis of the results of recent geic testing by his collaborators and himself.

Diseases of the bone, such as Paget\'s disease or hyperparathyroidism, diseases of blood cells, such as sickle-cell disease or multiple myeloma or lysosomal storage diseases, such as Gaucher\'s disease, will show moderately increased levels.

Neufeld has been awarded the Wolf Prize, the Albert Lasker Award for Cpnical Medical Research, and was awarded the National Medal of Science in 1994 " for her contributions to the understanding of the lysosomal storage diseases, demonstrating the strong pnkage beeen basic and appped scientific investigation ."

For example, cerebrovascular disorders involve brain injury due to problems with the blood vessels ( cardiovascular system ) supplying the brain; autoimmune disorders involve damage caused by the body\'s own immune system; lysosomal storage diseases such as Niemann-Pick disease can lead to neurological deterioration.

Geic defects in " HEXB " can result in the accumulation of GM2 gangposide in neural tissues and o of three lysosomal storage diseases collectively known as GM2 gangposidosis, of which Sandhoff disease ( defects in the " ? " subunit ) is the best studied one.

His current research interests include : 1 ) Studying the function and regulation of a group of enzymes called phosphoppase A2 that are involved in ppid mediator biosynthesis related to inflammation; 2 ) Anti-malaria and anti-trypanosome drug discovery; 3 ) New technology for the newborn screening of enzyme deficiency diseases including lysosomal storage diseases.

It\'s difficult to find lysosomal storage diseases in a sentence. 用lysosomal storage diseases造句挺難的