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ey0021.2-12 | Newborn Screening for ALD | ESPEYB21

2.12. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

Alcantara J Ramirez , NR Grant , S Sethuram , A Nagy , C Becker , I Sahai , T Stanley , A Halper , FS Eichler

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

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ey0019.11-3 | New findings in adipose tissue biology | ESPEYB19

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

Z Jiang , M Zhao , L Voilquin , Y Jung , MA Aikio , T Sahai , FY Dou , AM Roche , I Carcamo-Orive , JW Knowles , M Wabitsch , EA Appel , CL Maikawa , JP Camporez , GI Shulman , L Tsai , ED Rosen , CD Gardner , BM Spiegelman , KJ Svensson

katrinjs@stanford.edu Cell Metab 2021; 33(9): 18361852.e11http://www.ncbi.nlm.nih.gov/pubmed/34348115Brief Summary: This rodent study identified a novel adipokine in mice which triggers a signaling cascade similar to that of insulin. By acting via an unknown tyrosine kinase, isthmin-1 (ISM1) ameliorates metabolic disturbances associated wit...

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ESPE Yearbook of Paediatric Endocrinology

2.12. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

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