Tim Wood

TL;DR: A history of defining MPS IVA and how the understanding of the disease manifestations has changed over time is presented and the classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently.

TL;DR: The clinical features observed in SRS are consistent with cerebellar dysfunction and a defective functioning of red nucleus neurons, which, at least in rats, contain high levels of spermine, and the presence of MR reflects a role for s permine in cognitive function, possibly by sper mine's ability to function as an ‘intrinsic gateway’ molecule for inward rectifier K+ channels.

TL;DR: Clinical, biochemical and molecular findings in 61 probands, including 42 novel mutations in GNPTAB, provide a broad perspective of mucolipidoses II and III, andple clinical information improves criteria for delineation of ML II and ML III.

TL;DR: DNA sequence analysis and/or a Cr:Crn urine screen is warranted in any male with MR of unknown cause and 14 novel intronic and neutral variants that were not encountered in at least 280 male control chromosomes and should be considered as unclassified variants are found.

TL;DR: In this article, the short-term effects of simulated acid rain (pH range 5.6 - 2.3) upon the growth and nutrient relations of Eastern White Pine seedlings (Pinus strobus, L.) grown in a sandy loam soil were examined.