lecithin cholesterol acyltransferase deficiency/tyrosine

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

3 matokeo

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.

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Ingia / Ingia

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].

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Ingia / Ingia

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.

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Ingia / Ingia

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

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Herbal & Natural Medicine

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