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Dr. Jaffé and others studied the congenital type and helped determine that it was caused by the lack of an enzyme, cytochrome b5 reductase.
The acquired type is more common than the congenital type [2].
In the congenital type, there is a defect in the AV component of the membranous septum, resulting in direct shunting from the LV to the RA, above the hinge points of the tricuspid valve leaflets.
Before the definitive surgery, additional multimodal examinations, including cholangiography taken by the ENBD tube (Fig. 1c), CT, magnetic resonance cholangiopancreatography, ultrasonography, and pathology tests, revealed a congenital type IVa CC, according to Todani's classification [6], but no signs of malignancy.
© 2010 Wiley-Liss, Inc. Leber Congenital Amaurosis (LCA; MIM# 204000) was first described as a congenital type of retinitis pigmentosa (RP).
A recently published study focussed on patients with myotonia congenital type Becker, a non-dystrophic generalised myotonia caused by mutations in the muscle chloride gene.
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In the hydrocephalic brain (post-hemorrhagic and congenital types), an astroglial reaction is a frequently encountered pathology within the periventricular white matter which is similar to what we identified in the mutant mice [30].
The results would have been richer and improved the reliability of some domains, such as problems with treatment, if other types of heart disease, including congenital types, would have been included.
From a clinical perspective DM1 may be classified into four different subtypes: (i) mild; (ii) classical; (iii) juvenile and (iv) congenital types: (i) mild DM1: mildly symptomatic patients may have premature cataracts and baldness as the sole clinical features.
Of the four CGL types, BSCL2 (Berardinelli Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots.
Relationships among restitution curve slopes, alternans and arrhythmogencity have been established in canine preparations made to model congenital LQTS type 2 18 and of genetic mouse models of LQTS type 3 and BrS.
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