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Sphingomyelin accumulation with or without significant sphingomyelinase deficiency are features of Niemann-Pick disease, of which subtypes A, C and D manifest with irreversible neurological damage [ 92].
Patients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.
Here, we describe the first human case of CDKN1 B deficiency, which recapitulates features of the murine CDKN1 B knockout mouse model, including gigantism and neurodevelopmental defects.
A combination of bacterial pathogenic features and deficiency of host defense may permit this bacterium to establish infection in the lower respiratory tract resulting in inflammation and clinical disease.
Unlike lipodystrophy, which features chronic deficiency of adipose tissue, cachexia is an acute wasting disease.
Most experiments were performed using both Rps19- and Rpl11-deficient models to reveal features common for deficiency of RPs from both small and large ribosomal subunits.
Whatever your opinion is about the Affordable Care Act, its strength is a series of features designed to get at this deficiency in our moral landscape.
Contrast agents sometimes cause hypoxia in the kidney a deficiency of oxygenation and the primary feature of progressive chronic kidney disease [ 3- 5].
One of these features is a deficiency of the neurotransmitter acetylcholine; neurons containing acetylcholine play an important role in memory.
The studies with knockout mice showed that deficiency of sPLA2-X reduced allergen-induced features of airway inflammation [ 14].
One young adult (subject 9) had biochemical evidence over 5 years of a progressive deficiency of brain dopamine but without clinical features of Parkinsonism.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com