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ey0018.5-3 | Advances in clinical practice | ESPEYB18

5.3. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

Cebeci Ayşe Nurcan , Zou Minjing , BinEssa Huda A , Alzahrani Ali S , l-Rijjal Roua A , Al-Enezi Anwar F , Al-Mohanna Futwan A , Cavalier Etienne , Meyer Brian F , Shi Yufei

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.97996 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...

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ey0021.12-16 | Lipid Metabolism | ESPEYB21

12.16. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia

A Wiegman , S Greber-Platzer , S Ali , MD Reijman , EA Brinton , MJ Charng , S Srinivasan , C Baker-Smith , S Baum , JA Brothers , J Hartz , PM Moriarty , J Mendell , S Bihorel , P Banerjee , RT George , B Hirshberg , R Pordy

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

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ESPE Yearbook of Paediatric Endocrinology

5.3. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

12.16. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia

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