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lecithin cholesterol acyltransferase deficiency/tyrosine
Povezava se shrani v odložišče
3 rezultatov
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
BACKGROUND
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism characterized by the absence of high density lipoprotein (HDL) and the triad of corneal opacification, hemolytic anemia and glomerulopathy.
METHODS
We here report
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Many systemic lysosomal storage disorders show basic corneal opacities already in childhood. The lysosome is a cell organelle, produced by Golgi's apparatus, that is surrounded by a membrane and contains hydrolytic enzymes that break down food molecules, especially proteins and other complex
Corneal dystrophies.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into
Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo
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* Vse informacije temeljijo na objavljenih znanstvenih raziskavah
