FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3091062127> ?p ?o ?g. }

• W3091062127 endingPage "e674" @default.
• W3091062127 startingPage "e660" @default.
• W3091062127 abstract "Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting This was a multicenter retrospective study using information collected from 3 predominant centers. Patients A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder." @default.
• W3091062127 created "2020-10-08" @default.
• W3091062127 creator A5000404849 @default.
• W3091062127 creator A5000670963 @default.
• W3091062127 creator A5001000588 @default.
• W3091062127 creator A5005262988 @default.
• W3091062127 creator A5006275997 @default.
• W3091062127 creator A5006644013 @default.
• W3091062127 creator A5006892855 @default.
• W3091062127 creator A5007930897 @default.
• W3091062127 creator A5007983685 @default.
• W3091062127 creator A5008619086 @default.
• W3091062127 creator A5008726747 @default.
• W3091062127 creator A5009347088 @default.
• W3091062127 creator A5010292755 @default.
• W3091062127 creator A5010714987 @default.
• W3091062127 creator A5013089390 @default.
• W3091062127 creator A5013973106 @default.
• W3091062127 creator A5014904474 @default.
• W3091062127 creator A5015410212 @default.
• W3091062127 creator A5015638369 @default.
• W3091062127 creator A5016142308 @default.
• W3091062127 creator A5016722505 @default.
• W3091062127 creator A5017928129 @default.
• W3091062127 creator A5018091743 @default.
• W3091062127 creator A5018201730 @default.
• W3091062127 creator A5020386615 @default.
• W3091062127 creator A5022994223 @default.
• W3091062127 creator A5024253291 @default.
• W3091062127 creator A5026467693 @default.
• W3091062127 creator A5027007981 @default.
• W3091062127 creator A5028369459 @default.
• W3091062127 creator A5029477741 @default.
• W3091062127 creator A5030179389 @default.
• W3091062127 creator A5030222034 @default.
• W3091062127 creator A5030864602 @default.
• W3091062127 creator A5031917279 @default.
• W3091062127 creator A5033001651 @default.
• W3091062127 creator A5033262447 @default.
• W3091062127 creator A5033383596 @default.
• W3091062127 creator A5033695524 @default.
• W3091062127 creator A5034718702 @default.
• W3091062127 creator A5035132496 @default.
• W3091062127 creator A5035835979 @default.
• W3091062127 creator A5037300070 @default.
• W3091062127 creator A5037720412 @default.
• W3091062127 creator A5038395431 @default.
• W3091062127 creator A5039106361 @default.
• W3091062127 creator A5039706499 @default.
• W3091062127 creator A5040100525 @default.
• W3091062127 creator A5040197058 @default.
• W3091062127 creator A5042069941 @default.
• W3091062127 creator A5042812382 @default.
• W3091062127 creator A5043365982 @default.
• W3091062127 creator A5045114113 @default.
• W3091062127 creator A5045446379 @default.
• W3091062127 creator A5046312635 @default.
• W3091062127 creator A5047558085 @default.
• W3091062127 creator A5048266882 @default.
• W3091062127 creator A5049804598 @default.
• W3091062127 creator A5051248957 @default.
• W3091062127 creator A5051449137 @default.
• W3091062127 creator A5051632364 @default.
• W3091062127 creator A5051869966 @default.
• W3091062127 creator A5052843444 @default.
• W3091062127 creator A5053154938 @default.
• W3091062127 creator A5053615453 @default.
• W3091062127 creator A5053802698 @default.
• W3091062127 creator A5053958622 @default.
• W3091062127 creator A5054078920 @default.
• W3091062127 creator A5054173415 @default.
• W3091062127 creator A5055235123 @default.
• W3091062127 creator A5056096494 @default.
• W3091062127 creator A5056155905 @default.
• W3091062127 creator A5056628902 @default.
• W3091062127 creator A5057582530 @default.
• W3091062127 creator A5059321725 @default.
• W3091062127 creator A5062444007 @default.
• W3091062127 creator A5062716638 @default.
• W3091062127 creator A5063118401 @default.
• W3091062127 creator A5063795446 @default.
• W3091062127 creator A5063933902 @default.
• W3091062127 creator A5064045676 @default.
• W3091062127 creator A5065566020 @default.
• W3091062127 creator A5065753108 @default.
• W3091062127 creator A5065785358 @default.
• W3091062127 creator A5066112081 @default.
• W3091062127 creator A5066130759 @default.
• W3091062127 creator A5068002114 @default.
• W3091062127 creator A5068418202 @default.
• W3091062127 creator A5068694836 @default.
• W3091062127 creator A5069216403 @default.
• W3091062127 creator A5072286547 @default.
• W3091062127 creator A5072681694 @default.
• W3091062127 creator A5073291086 @default.
• W3091062127 creator A5073310211 @default.
• W3091062127 creator A5073320570 @default.
• W3091062127 creator A5073698341 @default.

• next