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Select item 38977971.

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Matthew A. Lines, C. Anthony Rupar, Jack W. Rip, Berivan Baskin, Peter N. Ray, Robert A. Hegele, David Grynspan, Jean Michaud, Michael T. Geraghty

JIMD Rep. 2014; 12: 79–84. Published online 2013 Jul 31. doi: 10.1007/8904_2013_247

PMCID:: PMC3897797

Abstract Article PDF–506K

Select item 77295142.

ISSD: Improved SSD for Insulator and Spacer Online Detection Based on UAV System

Xuan Liu, Yong Li, Feng Shuang, Fang Gao, Xiang Zhou, Xingzhi Chen

Sensors (Basel) 2020 Dec; 20(23): 6961. Published online 2020 Dec 5. doi: 10.3390/s20236961

PMCID:: PMC7729514

Abstract Article PDF–74M

Select item 11314843.

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.

H J Blom, H C Andersson, R Seppala, F Tietze, W A Gahl

Biochem J. 1990 Jun 15; 268(3): 621–625. doi: 10.1042/bj2680621

PMCID:: PMC1131484

Summary Page Browse PDF–987K

Select item 1481534.

ISSD Version 2.0: taxonomic range extended.

I A Adzhubei, A A Adzhubei

Nucleic Acids Res. 1999 Jan 1; 27(1): 268–271. doi: 10.1093/nar/27.1.268

PMCID:: PMC148153

Summary PDF–128K

Select item 28205015.

The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS Myelination

Laura M. Prolo, Hannes Vogel, Richard J. Reimer

J Neurosci. 2009 Dec 9; 29(49): 15355–15365. doi: 10.1523/JNEUROSCI.3005-09.2009

PMCID:: PMC2820501

Abstract Article PDF–3.6M

Select item 12878886.

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen

Am J Hum Genet. 2000 Oct; 67(4): 832–840. Published online 2000 Aug 17. doi: 10.1086/303077

PMCID:: PMC1287888

Abstract Article PDF–342K

Select item 5330507.

Functional characterization of wild-type and mutant human sialin

Pierre Morin, Corinne Sagné, Bruno Gasnier

EMBO J. 2004 Nov 24; 23(23): 4560–4570. Published online 2004 Oct 28. doi: 10.1038/sj.emboj.7600464

PMCID:: PMC533050

Abstract Article PDF–454K

Select item 85596178.

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene

Afia Hasnain, Sherri Burnett, Ronald Agatep, Elizabeth Spriggs, Bernard Chodirker, Aizeddin (Aziz) A. Mhanni

Cold Spring Harb Mol Case Stud. 2021 Oct; 7(5): a006106. doi: 10.1101/mcs.a006106

PMCID:: PMC8559617

Abstract Article PDF–2.5M

Select item 81750779.

Free Sialic Acid Storage Disorder: Progress and Promise

Marjan Huizing, Mary E. Hackbarth, David R Adams, Melissa Wasserstein, Marc C Patterson, Steven U Walkley, William A Gahl, FSASD Consortium

Neurosci Lett. Author manuscript; available in PMC 2021 Jun 11.

Published in final edited form as: Neurosci Lett. 2021 Jun 11; 755: 135896. Published online 2021 Apr 20. doi: 10.1016/j.neulet.2021.135896

PMCID:: PMC8175077

Abstract Article PDF–1.0M

Select item 342117010.

Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane

Lizheng Qin, Xibao Liu, Qifei Sun, Zhipeng Fan, Dengsheng Xia, Gang Ding, Hwei Ling Ong, David Adams, William A. Gahl, Changyu Zheng, Senrong Qi, Luyuan Jin, Chunmei Zhang, Liankun Gu, Junqi He, Dajun Deng, Indu S. Ambudkar, Songlin Wang

Proc Natl Acad Sci U S A. 2012 Aug 14; 109(33): 13434–13439. Published online 2012 Jul 9. doi: 10.1073/pnas.1116633109

PMCID:: PMC3421170

Abstract Article PDF–1.4M

Select item 180148811.

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

J Schleutker, P Leppänen, J E Månsson, A Erikson, J Weissenbach, L Peltonen, P Aula

Am J Hum Genet. 1995 Oct; 57(4): 893–901.

PMCID:: PMC1801488

Summary Page Browse PDF–1.3M

Select item 14725212.

An Integrated Sequence-Structure Database incorporating matching mRNA sequence, amino acid sequence and protein three-dimensional structure data.

I A Adzhubei, A A Adzhubei, S Neidle

Nucleic Acids Res. 1998 Jan 1; 26(1): 327–331. doi: 10.1093/nar/26.1.327

PMCID:: PMC147252

Summary PDF–126K

Select item 1104794713.

Microbiota Metabolite Profiles and Dietary Intake in Older Individuals with Insomnia of Short vs. Normal Sleep Duration

Carmel Even, Faiga Magzal, Tamar Shochat, Iris Haimov, Maayan Agmon, Snait Tamir

Biomolecules. 2024 Apr; 14(4): 419. Published online 2024 Mar 30. doi: 10.3390/biom14040419

PMCID:: PMC11047947

Abstract Article PDF–993K

Select item 1038973414.

Tongue strength and endurance among typically developing children and children with idiopathic speech sound disorders in the United Arab Emirates

Mohammed Safi, Dalia Mohammad Alzyod, Maxwell Peprah Opoku, Yasser E. Agamy

PLoS One. 2023; 18(7): e0289400. Published online 2023 Jul 31. doi: 10.1371/journal.pone.0289400

PMCID:: PMC10389734

Abstract Article PDF–1.0M

Select item 1008994215.

Insomnia with Objective Short Sleep Duration in Community-Living Older Persons: A Multifactorial Geriatric Health Condition

Brienne Miner, Margaret Doyle, Melissa Knauert, H. Klar Yaggi, Katie L. Stone, Sonia Ancoli-Israel, Jane A. Cauley, Susan Redline, Terri Blackwell, Thomas M. Gill

J Am Geriatr Soc. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: J Am Geriatr Soc. 2023 Apr; 71(4): 1198–1208. Published online 2022 Dec 16. doi: 10.1111/jgs.18195

PMCID:: PMC10089942

Abstract Article PDF–243K

Select item 997842416.

Comparison of the treatment effectiveness between lemborexant and zolpidem tartrate extended-release for insomnia disorder subtypes defined based on polysomnographic findings

Yuichi Inoue, Maika Nishida, Naoki Kubota, Michinori Koebis, Takehiro Taninaga, Kenzo Muramoto, Kohei Ishikawa, Margaret Moline

J Clin Sleep Med. 2023 Mar 1; 19(3): 519–528. Published online 2023 Mar 1. doi: 10.5664/jcsm.10378

PMCID:: PMC9978424

Abstract Article PDF–818K

Select item 981999217.

Isolated Sphenoid Sinus Disease in Children

Michal Kotowski, Jaroslaw Szydlowski

Int J Environ Res Public Health. 2023 Jan; 20(1): 847. Published online 2023 Jan 2. doi: 10.3390/ijerph20010847

PMCID:: PMC9819992

Abstract Article PDF–577K

Select item 953184018.

Bridge crack detection based on improved single shot multi-box detector

Guanlin Lu, Xiaohui He, Qiang Wang, Faming Shao, Jinkang Wang, Qunyan Jiang

PLoS One. 2022; 17(10): e0275538. Published online 2022 Oct 4. doi: 10.1371/journal.pone.0275538

PMCID:: PMC9531840

Abstract Article PDF–2.3M

Select item 937846719.

Association of insomnia phenotypes based on polysomnography-measured sleep duration with suicidal ideation and attempts

Kevin G. Saulnier, Rupsha Singh, Kristina P. Lenker, Susan L. Calhoun, Fan He, Duanping Liao, Alexandros N. Vgontzas, Edward O. Bixler, Julio Fernandez-Mendoza

Sleep Health. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Sleep Health. 2022 Aug; 8(4): 391–397. Published online 2022 Jun 19. doi: 10.1016/j.sleh.2022.05.004