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Niemann-Pick disease types A and B occur due to mutations in the gene of the enzyme acid sphingomyelinase (SMase), whereas Niemann-Pick disease type C1 (NPC1) is due to defective cholesterol transport from the lysosome, with a secondary defect in SMase activity, and this may result in the accumulation of unesterified cholesterol in perinuclear lysosomes (94).
The secondary defect was skin grafted (Fig. 1).
There was no secondary defect or ectropion postoperatively.
BFP is particularly useful for the repair of secondary defect after cleft palate surgery [3, 4].
In six patients, skin grafts were required to cover the secondary defect, as direct closure was not possible (Fig. 2a c).
The flap is designed as a rotation flap and the secondary defect is then closed by advancement using the laxity at the dorsal wrist crease.
Similar(43)
IscU protein deficiency causes secondary defects in several iron sulfur dependant proteins, including enzymes involved in aerobic energy metabolism.
In this paper we present an experimental study showing the distribution of secondary defects created by an helium implantation process.
The gold standard for the diagnosis of intestinal disorders associated with carbohydrate malabsorption due to primary or secondary defects in SI are endoscopic small bowel biopsies and assessment of disaccharidase activities exvivo.
Math5 mutant mice lack RGCs and optic nerves [8], [9], and have secondary defects in retinal vascularization [10] and circadian photoentrainment [11].
Although the phenotypes are secondary defects caused by the primary defect of disrupted GABA signaling in the CNS, they are fully penetrant developmental defects that are similar to some of the most common developmental defects seen in humans.
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