Persistent Increase in Serum Ferritin Levels despite Converting to Permanent Vascular Access in Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study.

Autor: Onder AM; Division of Pediatric Nephrology, Batson Children's Hospital of Mississippi, University of Mississippi, Jackson, MS 39216, USA.; Division of Pediatric Nephrology, Nemours Children's Hospital, Delaware, Wilmington, DE 19803, USA., Ansari MAY; Department of Data Science, University of Mississippi Medical Center, Jackson, MS 39216, USA., Deng F; Kidney Diseases Division, Feinberg School of Medicine, Northwestern University, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Grinsell MM; Division of Pediatric Nephrology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84112, USA., Patterson L; Division of Pediatric Nephrology, Children's National Health System, Washington, DC 20010, USA., Jetton J; Division of Nephrology, Dialysis and Transplantation, University of Iowa Stead Family Children's Hospital, Iowa City, IA 52242, USA., Fathallah-Shaykh S; Division of Pediatric Nephrology, Children's of Alabama, University of Alabama, Birmingham, AL 35233, USA., Ranch D; Division of Pediatric Nephrology, University of Texas Health Science Center, San Antonio, TX 78229, USA., Aviles D; Division of Pediatric Nephrology, Children's Hospital New Orleans, LSU Heath School of Medicine, New Orleans, LA 70118, USA., Copelovitch L; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ellis E; Division of Pediatric Nephrology, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Chadha V; Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO 64108, USA., Elmaghrabi A; Division of Pediatric Nephrology, Children's Medical Center Dallas, UT Southwestern, Dallas, TX 75235, USA., Lin JJ; Division of Pediatric Nephrology, Brenner Children's Hospital, Wake Forest University, Winston Salem, NC 27157, USA., Butani L; Division of Pediatric Nephrology, UC Davis Children's Hospital, Sacramento, CA 95817, USA., Haddad M; Division of Pediatric Nephrology, UC Davis Children's Hospital, Sacramento, CA 95817, USA., Marsenic O; Division of Pediatric Nephrology, Lucile Packard Children's Hospital, Stanford University School of Medicine, Stanford, CA 94305, USA., Brakeman P; Division of Pediatric Nephrology, UCSF Benioff Children's Hospital, San Francisco, CA 94158, USA., Quigley R; Division of Pediatric Nephrology, Children's Medical Center Dallas, UT Southwestern, Dallas, TX 75235, USA., Shin HS; Division of Pediatric Nephrology, Children's Healthcare of Atlanta, Atlanta, GA 30322, USA., Garro R; Division of Pediatric Nephrology, Children's Healthcare of Atlanta, Atlanta, GA 30322, USA., Raina R; Division of Pediatric Nephrology, Akron Children's Hospital, Akron, OH 44308, USA., Langman CB; Kidney Diseases Division, Feinberg School of Medicine, Northwestern University, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.

Publikováno v: Journal of clinical medicine [J Clin Med] 2023 Jun 25; Vol. 12 (13). Date of Electronic Publication: 2023 Jun 25.

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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

Autor: Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Cardinale CJ; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kim SE; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Merves J; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Whitworth H; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Raffini L; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Larosa C; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Copelovitch L; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hou C; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Slater D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Vaccaro C; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Billheimer J; Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 463-472. Date of Electronic Publication: 2021 Oct 15.

Conversion to permanent vascular access is associated with improved markers of hemodialysis efficacy in children: Pediatric nephrology research consortium study.

Autor: Onder AM, Flynn JT, Ansari MAY, Deng F, DeFreitas M, Katsoufis C, Grinsell MM, Patterson L, Jetton J, Fathallah-Shaykh S, Ranch D, Aviles D, Copelovitch L, Ellis E, Chadha V, Elmaghrabi A, Lin JJ, Butani L, Haddad M, Marsenic O, Brakeman P, Quigley R, Shin HS, Garro R, Raina R, Langman CB, Wood E

Publikováno v: Clinical nephrology [Clin Nephrol] 2021 Nov; Vol. 96 (5), pp. 270-280.

Reply.

Autor: Vajravelu RK; Division of Gastroenterology and Hepatology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Copelovitch L; Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Denburg MR; Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Publikováno v: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association [Clin Gastroenterol Hepatol] 2021 Sep; Vol. 19 (9), pp. 1994. Date of Electronic Publication: 2020 Nov 20.