Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Autor: Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)

Abstract Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently �

Externí odkaz: https://doaj.org/article/ff12e2767c3c4f77888b31bc65408744

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Autor: William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. Bedoyan

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with

Externí odkaz: https://doaj.org/article/f5520ae4f14f47fd9a67479afdbf884f

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Autor: Ah Mew N; Children's National Health System, Washington, DC, USA., Cnaan A; Children's National Health System, Washington, DC, USA., McCarter R; Children's National Health System, Washington, DC, USA., Choi H; Children's National Health System, Washington, DC, USA., Glass P; Children's National Health System, Washington, DC, USA., Rice K; Children's National Health System, Washington, DC, USA., Scavo L; Children's National Health System, Washington, DC, USA., Gillespie CW; Children's National Health System, Washington, DC, USA., Diaz GA; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Berry GT; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wong D; UCLA Mattel Children's Hospital, Los Angeles, CA, USA., Konczal L; Rainbow Babies and Children's Hospital, Cleveland, OH, USA., McCandless SE; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Coughlin Ii CR; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Weisfeld-Adams JD; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yudkoff M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Enns GM; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA., Lichter-Konecki U; Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Gallagher R; UCSF Benioff Children's Hospital, San Francisco, CA, USA., Tuchman M; Children's National Health System, Washington, DC, USA.

Publikováno v: Translational science of rare diseases [Transl Sci Rare Dis] 2018 Dec 20; Vol. 3 (3-4), pp. 157-170. Date of Electronic Publication: 2018 Dec 20.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Autor: Beunders G; Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, The Netherlands., Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA

Publikováno v: American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 210-20. Date of Electronic Publication: 2013 Jan 17.

Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.

Autor: Dyke PC 2nd; Department of Pediatrics, Nationwide Children's Hospital Heart Center, Columbus, OH 43205-2696, USA., Konczal L, Bartholomew D, McBride KL, Hoffman TM

Publikováno v: Pediatric cardiology [Pediatr Cardiol] 2009 May; Vol. 30 (4), pp. 523-6. Date of Electronic Publication: 2008 Dec 16.