Daniel L. Kraft

TL;DR: Mutation analysis on samples from 143 unrelated affected NPC patients is described using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively, which raise the possibilities of an additional NPC complementation group(s) or non‐specificity of the biochemical testing for NPC.

TL;DR: It is demonstrated that NPC-variant fibroblast samples can be detected as sphingolipid storage disease cells, using a fluorescent sphingoipid analog, BODIPY-lactosylceramide, and found that 5 of the 12 variant cell samples had no apparent defect in NPC1 but were otherwise indistinguishable from other variant cells.

TL;DR: The utility of the utility of a simple method utilizing a DB‐17‐coated capillary to slow endoosmotic flow and a sieving buffer containing hydroxyethyl cellulose for the resolution of sialoforms of transferrin is demonstrated, and it is postulated that it may allow for the detection of other carbohydrate‐deficient protein‐related disease states.

TL;DR: It is highlighted that there is a broad phenotypic spectrum associated with C2CD3-mediated disease and not all patients present with the typical features of OFD14, and each of the families had a distinct clinical phenotype and severity of disease, extending from lethal to viable.

TL;DR: It is shown how reliance on SUAC as a primary diagnostic test can be misleading in some patients with this disease, andmentation of current screening for TYRSN1 with targeted sequencing of FAH is warranted in cases suggestive of the disorder.