Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Inderneel Sahai"'
Autor:
Janey L. Wiggs, Inderneel Sahai, Eric D. Gaier, Brian McGeeney, Crandall E. Peeler, Jodi D. Hoffman
Publikováno v:
Ophthalmic Genet
PURPOSE: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causi
Autor:
Rossana Sanchez Russo, Charles M. Rowland, Chung Lee, Pranoot Tanpaiboon, Stephen D. Cederbaum, Inderneel Sahai, Denise Salazar, Derek Wong, Yue Huang, Felicitas Lacbawan, Rajesh Sharma, Juanita Neira, Susan Sklower Brooks, Annette Feigenbaum, Kelly E. Jackson
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood.
Autor:
Jaime E. Hale, John L. Sullivan, Jolan E. Walter, Inderneel Sahai, Ellen R. Cooper, Craig D. Platt, Sara Barmettler, H. Cody Meissner, Anne Marie Comeau, Jocelyn R. Farmer, Alicia M. Johnston, Alfred DeMaria, Nancy Yang, Roger B. Eaton, Sung-Yun Pai, Paul E. Hesterberg, Donna Fisher, Francisco A. Bonilla, Beverly N. Hay, Mark S. Pasternack, Luigi D. Notarangelo
Publikováno v:
J Allergy Clin Immunol Pract
Background Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots. Objective We describe developments and outcomes from the first 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96898b671125b3bf89f8e410335fd3dd
https://europepmc.org/articles/PMC8113135/
https://europepmc.org/articles/PMC8113135/
Autor:
Anne Marie Comeau, Jin Yun Helen Chen, Inderneel Sahai, Kathryn J. Swoboda, Anne M. Counihan, Binod Kumar, Basil T. Darras, Jacalyn L. Gerstel-Thompson, Beverly N. Hay, Jaime E. Hale, Roger B. Eaton, Elicia Estrella, Mary-Alice Abbott
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 26, p 26 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening
Volume 7
Issue 2
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection
Publikováno v:
The Oncologist. 21:514-520
UNLABELLED We report a case of a 31-year-old man with metastatic fibrolamellar hepatocellular carcinoma (FLHCC) treated with gemcitabine and oxaliplatin complicated by hyperammonemic encephalopathy biochemically consistent with acquired ornithine tra
Autor:
Gerard T. Berry, Casie A. Genetti, Lance H. Rodan, Meghan C. Towne, Inderneel Sahai, Alan H. Beggs, Philip James, Sacha Ferdinandusse, Roy W A Peake, Pankaj B. Agrawal, Monica H. Wojcik, Catherine A. Brownstein, Klaas J. Wierenga
Publikováno v:
JIMD reports, 39, 45-54. Springer Berlin
JIMD Reports ISBN: 9783662575765
JIMD Reports ISBN: 9783662575765
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d496d0c8ada1a8ce4062b47427dcc1ea
https://pure.amc.nl/en/publications/betaketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals(7553894d-df03-4a15-9497-533208f47ed0).html
https://pure.amc.nl/en/publications/betaketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals(7553894d-df03-4a15-9497-533208f47ed0).html
Publikováno v:
Journal of Child Neurology. 20:826-828
Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive disorder caused by a deficiency of a lysosomal enzyme, galactocerebrosidase. This defect prevents normal turnover of the galactolipids and results in progressive