disease/defect
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
... Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar ...The ...
5
The Defect in Hemophilic and von Willebrand's Disease Plasmas Studied by a Recombination Technique
... Factor VIII in preparations from normal plasma is a large glycoprotein of greater than 2 million molecular weight which elutes in the exclusion volume of 4% agarose gels at an ionic strength of 0.15. Recent studies have ...
8
Localization of the oxidative defect in phytanic acid degradation in patients with refsum's disease
... the defect in phytanic acid oxidation in Refsum's disease is located in the first step of phytanic acid degradation, that is, in the alpha oxidation step leading to formation of a-hydroxyphytanic ...
9
The pattern of genetic transmission of the leukocyte defect in fatal granulomatous disease of childhood
... The leukocyte-phagocytic function test which was found to be abnormal in boys with fatal granulomatous disease of childhood has been found to be abnormal to an intermediate extent in their mothers. Nine of nine ...
10
Platelet interaction with rabbit subendothelium in von Willebrand's disease: altered thrombus formation distinct from defective platelet adhesion
... no defect in platelet adhesion was observed in von Willebrand's disease, platelet thrombus height and volume in this disorder were significantly reduced as compared with normal controls or patients with ...
13
Genetic and pharmacological inhibition of calcineurin corrects the BDNF transport defect in Huntington's disease
... transport defect in HD remain to be ...during disease progression, as observed in animal models and in the brains of HD patients [14,18] and/or an increase in calcineurin activity ...
11
LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn’s disease patients
... cell defect is the result of gene and environ- ment interactions, suggesting that proper environmental triggers or genetic context may be required to illicit Paneth cell defect in CD ...cell defect ...
15
The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?
... (1995) Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Goldfarb LG, Vasconcelos 0, Platonov FA, et al[r] ...
9
Various Techniques Used In Defect Segmentation and Disease Inspection in Fruits and Vegetables: A Survey
... leaf disease detection and classification system: Athanikar et al [8]have described a detection procedure using neural networks to detect and classify leaf samples of ...detected disease if the leaf is ...
8
Triglyceride Storage Disease: A Defect in Activation of Lipolysis in Adipose Tissue
... The basal release of glycerol (Fig. 3, center) and fatty acids (Fig. 3, bottom) from hand and foot of proband is in the same range as release from adult adipose tissue. However, no stimu[r] ...
8
Borna disease: association with a maturation defect in the cellular immune response.
... Three out of four normal rats which received the PTI-NB marrow developed signs of Borna disease by day 48, with 3 + encephalitis and 3+ meningitis, indicating that infectious BDV was loc[r] ...
11
INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION
... The reports of excessive aminoaciduria in acute Furthermore, the average daily excretion of the yellow atrophy may fairly be attributed to the 10 "essential" amino acids in the urine of [r] ...
15
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry
... storage disease [GSD] VII, Online Mendelian Inheritance in Man #232800, or Tarui disease) is an autosomal recessive disorder characterized by exercise-induced muscle weakness, pain, cramping, myoglobinuria, ...
6
Nature of the Renal Concentrating Defect in Sickle Cell Disease
... Since no defect in tubular sodium transport has been found in sickle cell patients, a limitation in maintaining a high concentration of solute in the medullary interstitium appears to be[r] ...
11
Refsum's disease: characterization of the enzyme defect in cell culture
... In one Table I summarizes the comparative rates of oxidaexperiment 0.007 uimoles of pristanate-U-"C SA = 33 ac/ tion in control and HAP cultures of labeled phytanate, ,gm was added to an[r] ...
17
Evidence of a Functional B-Cell Immunodeficiency in Adults Who Experience Serogroup C Meningococcal Disease
... gococcal disease are widely susceptible to other bacterial in- ...immune defect being responsible for susceptibility to meningococcal disease has been postulated ...the defect we discovered is ...
7
Factors Associated With Age at Operation for Children With Congenital Heart Disease
... Data from the OSHPD database for 1995 and 1996 were ob- tained in a format compatible with Microsoft Access 2.0 (Microsoft Corporation, WA). For purposes of this study, patients were se- lected for age between birth and ...
11
Imaging features of primary Sarcomas of the great vessels in CT, MRI and PET/CT: a single-center experience
... When an atypical vascular filling defect is noticed base on the criteria described above, further imaging workup is usually recommended to verify the suspicion of ma- lignant disease. Different imaging ...
9
The Insanity Defense: The New Loophole to Criminals
... mental disease or defect at the time of engaging in criminal conduct, the person lacks substantial capacity either to appreciate the criminality of the conduct or to conform the conduct to the requirements ...
12
Genetic aspects of congenital heart disease in down syndrome
... heart disease, digestive disorders and orthopaedic abnormalities. Heart disease is, without a doubt, the main factor contributing to a favourable or unfavourable course in these ...heart disease is ...
6