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However, the prevalence data emerging from this study further justify the considerable interest shown in this disorder from both a medical and a social point of view.
Additionally, the development of a DNA-based assay that can serve as a molecular diagnostic test for osteopetrosis carriers will facilitate the eradication of this disorder from the Red Angus population while minimizing loss of genetic merit.
With respect to clinical implications, it should be emphasized that, even though the Ganser syndrome is uncommon in children and adolescents, its recognition is necessary to distinguish this disorder from psychotic disorders, especially in adolescence.
The authors proposed that this genetically defined disease be called "spinocerebellar ataxia with myokymia, seizures or both (SAMS)", to distinguish this disorder from the late onset ataxia (LOA) reported by Forman et al. [ 9].
Additional assessment of at least one sensory nerve that is usually normal in these patients may help to distinguish this disorder from typical early onset hereditary motor sensory neuropathy 1.
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This makes it easy to mistake those who suffer from this disorder for people who, with a little coaxing — a dinner with friends or a distracting movie like "Wedding Crashers" (starring, Lord help us, Owen Wilson) — might bounce back the following day.
This disorder results from the inability of your cells to use insulin to extract sugar from nutrients and allow it to enter your bloodstream.
Much of this disorder stems from the legacy of Qaddafi's forty-two-year rule, but a lack of international follow-up after the 2011 revolution is also to blame.
This disorder results from an autoimmune response to intrinsic factor, a substance normally found in the stomach lining with which vitamin B12 must form a complex to be absorbed.
This disorder arises from an inherited defect in one of the enzymes needed for the production of cortisol, a hormone that plays a major role in the physiological response to stress.
At that time the technology did not exist to determine the cause of this disorder, but from these rare families we know that CIP now known by wonkier names like Channelopathy-associated insensitivity to pain and Hereditary Sensory and Autonomic Neuropathy is the result of specific mutations or deletions within single genes required for transmitting pain signals.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com