Found 7 datasets matching "down-syndrome".
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Background We investigated fetal and total DNA levels in maternal plasma in patients bearing fetuses affected with Down syndrome in comparison to controls carrying fetuses with normal...
Search relevance: 210.99 | Views last month: 1 -
Background Down syndrome is the most frequent genetic disorder in humans. Rare cases involving partial trisomy of chromosome 21 allowed a small chromosomal region common to all carriers,...
Search relevance: 105.46 | Views last month: 0 -
VIMIZIM (elosulfase alfa) is an injectable enzyme replacement therapy used to treat Mucopolysaccharidosis Type IVA (Morquio A syndrome), a rare genetic disorder. It works by providing the missing...
Search relevance: 53.11 | Views last month: 0 -
Background The ubiquitin-dependent protein degradation pathway is essential for the proteolysis of intracellular proteins and peptides. Deubiquitinating enzymes constitute a complex...
Search relevance: 52.27 | Views last month: 0 -
Background A review of the safety and efficacy of drinking water fluoridation was commissioned by the UK Department of Health to investigate whether the evidence supported a beneficial...
Search relevance: 50.84 | Views last month: 3 -
Background In humans, there are four alkaline phosphatases, and each form exibits a characteristic pattern of tissue distribution. The availability of an easy method to reveal their...
Search relevance: 49.71 | Views last month: 1 -
Background We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and...
Search relevance: 43.67 | Views last month: 0
