Prenatal Enzymatic Diagnosis of Lysosomal Storage Diseases using cultured amniotic cells, uncultured chorionic villus samples and fetal blood cells: Hacettepe experience.

08:00 EDT 14th August 2019 | BioPortfolio

Summary of "Prenatal Enzymatic Diagnosis of Lysosomal Storage Diseases using cultured amniotic cells, uncultured chorionic villus samples and fetal blood cells: Hacettepe experience."

To evaluate the results of prenatal enzymatic diagnostic studies for detecting lysosomal storage diseases (LSDs) during 1992-2018.


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This article was published in the following journal.

Name: Prenatal diagnosis
ISSN: 1097-0223


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Medical and Biotech [MESH] Definitions

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.

An abundant lysosomal-associated membrane protein that has been found to shuttle between LYSOSOMES; ENDOSOMES; and the PLASMA MEMBRANE. Loss of expression of lysosomal-associated membrane protein 2 is associated with GLYCOGEN STORAGE DISEASE TYPE IIB.

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.

The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

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