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408 results

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Page 1
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: mandel h. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: mandel h. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. Among authors: mandel h. J Inherit Metab Dis. 2025 Jan;48(1):e12800. doi: 10.1002/jimd.12800. Epub 2024 Sep 24. J Inherit Metab Dis. 2025. PMID: 39318119
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra N, Morani I, Bayan H, Bakry D, Shaalan M, Saadi H, Beni Shrem S, Sawaed A, Kok G, Muffels IJ, Fuchs SA, Shapira-Rootman M, Mor-Shaked H, Mandel H. Nasser Samra N, et al. Among authors: mandel h. Harefuah. 2023 Jun;162(6):344-351. Harefuah. 2023. PMID: 37394435 Hebrew.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. Samra N, et al. Among authors: mandel h. J Med Genet. 2023 Nov;60(11):1133-1141. doi: 10.1136/jmg-2023-109267. Epub 2023 Jul 17. J Med Genet. 2023. PMID: 37460201
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Mendes MI, Wolf NI, Rudinger-Thirion J, Lenz D, Frugier M, Verloo P, Mandel H, Manor J, Kassel R, Corpeleijn WE, van der Rijt S, Schroor EM, van Dooren SJM, Staufner C, Salomons GS, Smith DEC. Mendes MI, et al. Among authors: mandel h. Nucleic Acids Res. 2024 Dec 11;52(22):e107. doi: 10.1093/nar/gkae1134. Nucleic Acids Res. 2024. PMID: 39574415 Free PMC article.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: mandel h. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.
Sex Differences in Long COVID.
Shah DP, Thaweethai T, Karlson EW, Bonilla H, Horne BD, Mullington JM, Wisnivesky JP, Hornig M, Shinnick DJ, Klein JD, Erdmann NB, Brosnahan SB, Lee-Iannotti JK, Metz TD, Maughan C, Ofotokun I, Reeder HT, Stiles LE, Shaukat A, Hess R, Ashktorab H, Bartram L, Bassett IV, Becker JH, Brim H, Charney AW, Chopra T, Clifton RG, Deeks SG, Erlandson KM, Fierer DS, Flaherman VJ, Fonseca V, Gander JC, Hodder SL, Jacoby VL, Kotini-Shah P, Krishnan JA, Kumar A, Levy BD, Lieberman D, Lin JJ, Martin JN, McComsey GA, Moukabary T, Okumura MJ, Peluso MJ, Rosen CJ, Saade G, Shah PK, Sherif ZA, Taylor BS, Tuttle KR, Urdaneta AE, Wallick JA, Wiley Z, Zhang D, Horwitz LI, Foulkes AS, Singer NG; RECOVER Consortium. Shah DP, et al. JAMA Netw Open. 2025 Jan 2;8(1):e2455430. doi: 10.1001/jamanetworkopen.2024.55430. JAMA Netw Open. 2025. PMID: 39841477 Free PMC article.
2024 Update of the RECOVER-Adult Long COVID Research Index.
Geng LN, Erlandson KM, Hornig M, Letts R, Selvaggi C, Ashktorab H, Atieh O, Bartram L, Brim H, Brosnahan SB, Brown J, Castro M, Charney A, Chen P, Deeks SG, Erdmann N, Flaherman VJ, Ghamloush MA, Goepfert P, Goldman JD, Han JE, Hess R, Hirshberg E, Hoover SE, Katz SD, Kelly JD, Klein JD, Krishnan JA, Lee-Iannotti J, Levitan EB, Marconi VC, Metz TD, Modes ME, Nikolich JŽ, Novak RM, Ofotokun I, Okumura MJ, Parthasarathy S, Patterson TF, Peluso MJ, Poppas A, Quintero Cardona O, Scott J, Shellito J, Sherif ZA, Singer NG, Taylor BS, Thaweethai T, Verduzco-Gutierrez M, Wisnivesky J, McComsey GA, Horwitz LI, Foulkes AS; RECOVER Consortium. Geng LN, et al. JAMA. 2024 Dec 18. doi: 10.1001/jama.2024.24184. Online ahead of print. JAMA. 2024. PMID: 39693079
408 results