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Select item 12066881.

Genetics of the Synthesis of Serine from Glycine and the Utilization of Glycine as Sole Nitrogen Source by Saccharomyces Cerevisiae

D. A. Sinclair, I. W. Dawes

Genetics. 1995 Aug; 140(4): 1213–1222. doi: 10.1093/genetics/140.4.1213

PMCID:: PMC1206688

Summary PDF–5.4M

Select item 68510052.

The need for biochemical testing in beta‐enolase deficiency in the genomic era

Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan

JIMD Rep. 2019 Nov; 50(1): 40–43. Published online 2019 Sep 3. doi: 10.1002/jmd2.12070

PMCID:: PMC6851005

Article PDF–769K

Select item 107180613.

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review

Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu

J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633

PMCID:: PMC10718061

Article PDF–613K

Select item 106888884.

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan

Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan

PLoS One. 2023; 18(11): e0288965. Published online 2023 Nov 30. doi: 10.1371/journal.pone.0288965

PMCID:: PMC10688888

Article PDF–2.0M

Select item 106204105.

Causal effect of gallstone disease on the risk of coronary heart disease or acute myocardial infarction: a Mendelian randomization study

Qingan Fu, Tianzhou Shen, Qingyun Yu, Long Jiang, Renqiang Yang

Sci Rep. 2023; 13: 18807. Published online 2023 Nov 1. doi: 10.1038/s41598-023-46117-9

PMCID:: PMC10620410

Article PDF–5.6M

Select item 105269326.

A Comprehensive Update on Late-Onset Pompe Disease

Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

Biomolecules. 2023 Sep; 13(9): 1279. Published online 2023 Aug 22. doi: 10.3390/biom13091279

PMCID:: PMC10526932

Article PDF–848K

Select item 104548237.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv

Genes (Basel) 2023 Aug; 14(8): 1539. Published online 2023 Jul 27. doi: 10.3390/genes14081539

PMCID:: PMC10454823

Article PDF–3.0M

Select item 103570128.

Metabolic consequences of sex reversal in two lizard species: a test of the like-genotype and like-phenotype hypotheses

Kristoffer H. Wild, John H. Roe, Lisa Schwanz, Essie Rodgers, Duminda S. B. Dissanayake, Arthur Georges, Stephen D. Sarre, Daniel W. A. Noble

J Exp Biol. 2023 Jul 1; 226(13): jeb245657. Published online 2023 Jul 14. doi: 10.1242/jeb.245657

PMCID:: PMC10357012

Article

Select item 102149759.

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland

Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki

Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 207–212. Published online 2022 May 12. doi: 10.5114/pedm.2022.116115

PMCID:: PMC10214975

Article PDF–544K

Select item 1017945810.

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber

Int J Mol Sci. 2023 May; 24(9): 8247. Published online 2023 May 4. doi: 10.3390/ijms24098247

PMCID:: PMC10179458

Article PDF–7.4M

Select item 1007372511.

Immune transgene-dependent myocarditis in macaques after systemic administration of adeno-associated virus expressing human acid alpha-glucosidase

Juliette Hordeaux, Ali Ramezani, Steve Tuske, Nickita Mehta, Chunjuan Song, Anna Lynch, Katherine Lupino, Jessica A. Chichester, Elizabeth L. Buza, Cecilia Dyer, Hongwei Yu, Peter Bell, Jill M. Weimer, Hung Do, James M. Wilson

Front Immunol. 2023; 14: 1094279. Published online 2023 Mar 22. doi: 10.3389/fimmu.2023.1094279

PMCID:: PMC10073725

Article PDF–16M

Select item 985542412.

Metabolic Maturation Exaggerates Abnormal Calcium Handling in a Lamp2 Knockout Human Pluripotent Stem Cell-Derived Cardiomyocyte Model of Danon Disease

Robert J. Barndt, Qing Liu, Ying Tang, Michael P. Haugh, Jeffery Cui, Stephen Y. Chan, Haodi Wu

Biomolecules. 2023 Jan; 13(1): 69. Published online 2022 Dec 29. doi: 10.3390/biom13010069

PMCID:: PMC9855424

Article PDF–5.4M

Select item 979100513.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Sung Sup Park, Jung Min Ko, Moon-Woo Seong, Jong Hee Chae

Ann Lab Med. 2023 May 1; 43(3): 280–289. Published online 2022 Dec 22. doi: 10.3343/alm.2023.43.3.280

PMCID:: PMC9791005

Article PDF–537K

Select item 967790214.

Infantile Pompe disease with intrauterine onset: a case report and literature review

Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang

Ital J Pediatr. 2022; 48: 187. Published online 2022 Nov 21. doi: 10.1186/s13052-022-01379-3

PMCID:: PMC9677902

Article PDF–1.7M

Select item 960214515.

Molecular Cloning and Expression Responses of Jarid2b to High-Temperature Treatment in Nile Tilapia (Oreochromis niloticus)

Min Zhou, Zhilei Yao, Min Zhao, Qingfeng Fang, Xiangshan Ji, Hongju Chen, Yan Zhao

Genes (Basel) 2022 Oct; 13(10): 1719. Published online 2022 Sep 25. doi: 10.3390/genes13101719

PMCID:: PMC9602145

Article PDF–4.1M

Select item 960168716.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín

Genes (Basel) 2022 Oct; 13(10): 1835. Published online 2022 Oct 11. doi: 10.3390/genes13101835