Smith-Lemli-Opitz Syndrome

Louis‐Jacques, Adetola; Odibo, Anthony O.; Bradshaw, Rachael

doi:10.1016/b978-0-323-44548-1.00145-5

Cited by 2 publications

(2 citation statements)

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“…In the last fifty years, the discovery of a rare syndrome called Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400) which is caused by mutations in the DHCR7 gene provided interesting information [10,11]. SLOS has an incidence of 1:40,000 and it is clinically characterized by morphogenic and congenital aberrations, with cognitive retardation and altered behavior [12].…”

Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

“…On the other hand, Movassaghi et al evaluated 53 pediatric patients with SLOS and found significantly higher levels of 25 hydroxyvitamin D (25OHD), the marker of vitamin D status, across all seasons (48.06 ± 19.53 ng/mL vs. 30.51 ± 16.14 ng/mL, p < 0.01), without signs of vitamin D intoxication (normal serum calcium) [16]. In the last fifty years, the discovery of a rare syndrome called Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400) which is caused by mutations in the DHCR7 gene provided interesting information [10,11]. SLOS has an incidence of 1:40,000 and it is clinically characterized by morphogenic and congenital aberrations, with cognitive retardation and altered behavior [12].…”

Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

See 1 more Smart Citation

An Update on Vitamin D Metabolism

Saponaro

Saba

Zucchi

2020

IJMS

194

150

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Vitamin D is a steroid hormone classically involved in the calcium metabolism and bone homeostasis. Recently, new and interesting aspects of vitamin D metabolism has been elucidated, namely the special role of the skin, the metabolic control of liver hydroxylase CYP2R1, the specificity of 1α-hydroxylase in different tissues and cell types and the genomic, non-genomic and epigenomic effects of vitamin D receptor, which will be addressed in the present review. Moreover, in the last decades, several extraskeletal effects which can be attributed to vitamin D have been shown. These beneficial effects will be here summarized, focusing on the immune system and cardiovascular system.

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Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%