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Both autosomal, recessive and X linked forms of inheritance have been described with abnormalities in axonal transport being implicated in the pathogenesis of the most common form caused by mutation of the spastin gene [4].
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Neurotransmitter system abnormalities have been described with inorganic Pb2+, but recent attention has focused on the abnormalities in glutamate, dopamine and/or gamma-aminobutyric acid (GABA) uptake, efflux, and metabolism.
Renal abnormalities have been described with intravenous agents, particularly when they are given at high doses (above standard) or as a rapid infusion.
The pattern of radiographic abnormality suggesting different stages of infection has been described with ultrasonography, CT, and MRI.
Chromosomal abnormalities were described with an International System for Human Cytogenetic Nomenclature 2013 ISCN 20133) [ 28].
69 An additional patient was described with normal development, mild hepatic involvement, and coagulation abnormalities.
19 An adult with ALG6-CDG (CDG-Ic) was described with brachydactyly, deep vein thrombosis, pseudotumor cerebri with normal brain MRI, and endocrine abnormalities including hyperandrogenism with virilization.
Monosomy 8 has been described in conjunction with other genetic abnormalities in prostatic adenocarcinoma (12, 25).
Renal tubular abnormalities have been described in patients with RA and in those with Sjögren's syndrome [ 52, 53].
A large number of endocrine abnormalities has been described in patients with primary headaches [71, 72].
Platelet functional abnormalities have been described in patients with hepatocellular carcinoma (HCC).
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