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Apparent mineralocorticoid excess is an autosomal recessive [2] disorder causing hypertension (high blood pressure), hypernatremia (increased blood sodium concentration) and hypokalemia (decreased blood potassium concentration).
Macrophage activation syndrome is a severe, potentially life-threatening, complication of several chronic rheumatic diseases of childhood. It occurs most commonly with systemic-onset juvenile idiopathic arthritis (SoJIA).
Paget disease extramammary; Paget disease juvenile type; Paget's disease of bone; Paget's disease of the breast; Paget's disease, type 1; Pagon–Bird–Detter syndrome; Pagon–Stephan syndrome; Pai–Levkoff syndrome; Palant cleft palate syndrome; Palindromic rheumatism; Pallister–Hall syndrome; Pallister–Killian syndrome; Palmer–Pagon ...
The Annual Review of Pathology: Mechanisms of Disease is a peer-reviewed academic journal that publishes an annual volume of review articles relevant to pathology. It was established in 2006 and is published by Annual Reviews. Its co-editors have been Jon C. Aster, Mel B. Feany, and Jayanta Debnath since 2021.
A Designated Member Review (DMR) or Designated Subcommittee Review (DSR), also known as Designated Review, [1] is a review of a protocol where a committee designates one or more members of the committee to review a decisionmaking process or a protocol or procedure, a review which would ordinarily require the full committee's review.
Shulgin Ratings typically include three components. An identification of the chemical being ingested, a dosage, and a descriptive narrative including the ratings themselves used to describe various moments in time. The chemical itself must be clearly identified, preferably using chemical nomenclature, as opposed to popular or "street" names.
The US FDA has granted IntraBio a Rare Pediatric Disease Designation for N-Acetyl-Leucine for the treatment of GM2 Gangliosidosis. [ 12 ] Compassionate use studies in both Tay-Sachs and Sandhoff patients have demonstrated the positive clinical effects of treatment with N-Acetyl-Leucine for GM2 Gangliosidosis [ 13 ] These studies further ...
Onset of adult GM1 is typically in adolescence or adulthood and is the slowest progressing of the subtypes. [ citation needed ] Symptoms include muscle atrophy, neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some patients, and dystonia (sustained muscle ...