PMC Links for Books (Select 5470396) - PMC

Select item 94287891.

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder

Yu Shen, Yun Peng, Pengcheng Huang, Yilei Zheng, Shumeng Li, Kaiyan Jiang, Meihong Zhou, Jianwen Deng, Min Zhu, Daojun Hong

Front Genet. 2022; 13: 949038. Published online 2022 Aug 16. doi: 10.3389/fgene.2022.949038

PMCID:: PMC9428789

Abstract Article PDF–2.8M

Select item 93247622.

Prenatal Diagnosis of Neu–Laxova Syndrome

Adriana Serrano Olave, Alba Padín López, María Martín Cruz, Susana Monís Rodríguez, Isidoro Narbona Arias, Jesús S. Jiménez López

Diagnostics (Basel) 2022 Jul; 12(7): 1535. Published online 2022 Jun 23. doi: 10.3390/diagnostics12071535

PMCID:: PMC9324762

Abstract Article PDF–9.8M

Select item 83304943.

Adult diagnosis of congenital serine biosynthesis defect: a treatable cause of progressive neuropathy

Sarah Debs, Carlos R. Ferreira, Catherine Groden, H. Jeffrey Kim, Kelly A. King, Monique C. King, Tanya Lehky, Edward W. Cowen, Laura H. Brown, Melissa Merideth, Carter M. Owen, Ellen Macnamara, Camilo Toro, William A. Gahl, Ariane Soldatos

Am J Med Genet A. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2102–2107. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62245

PMCID:: PMC8330494

Abstract Article PDF–258K

Select item 74972894.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 67325275.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao-Yan Wen, Maja Tarailo-Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand-Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos Ruiter, Jolita Ciapaite, Leo A.J. Kluijtmans, Michel A.A.P. Willemsen, Judith J. Jans, Colin J. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J.A. Wanders, Nanda M. Verhoeven-Duif, Maha S. Zaki, Ron A. Wevers

Am J Hum Genet. 2019 Sep 5; 105(3): 534–548. Published online 2019 Aug 15. doi: 10.1016/j.ajhg.2019.07.015

PMCID:: PMC6732527

Abstract Article PDF–2.3M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 41571447.

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniene, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hülya Kayserili, Nursel Elcioglu, Siavash Ghaderi-Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas R. Janecke, Alexander Hoischen, Martin Zenker

Am J Hum Genet. 2014 Sep 4; 95(3): 285–293. doi: 10.1016/j.ajhg.2014.07.012

PMCID:: PMC4157144

Abstract Article PDF–1.5M

Select item 41214798.

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M. Al-Qattan, Halima A. Almadani, Noufa Al-Onazi, Badi S. Al-Baqawi, Mohammad Ali Saleh, Fowzan S. Alkuraya

Am J Hum Genet. 2014 Jun 5; 94(6): 898–904. doi: 10.1016/j.ajhg.2014.04.015

PMCID:: PMC4121479

Abstract Article PDF–1.6M

Select item 37572599.

Fatal cerebral edema associated with serine deficiency in CSF

Irene M. L. W. Keularts, Piet L. J. M. Leroy, Estela M. Rubio-Gozalbo, Leo J. M. Spaapen, Biene Weber, Bert Dorland, Tom J. de Koning, Nanda M. Verhoeven-Duif

J Inherit Metab Dis. 2010; 33(Suppl 3): 181–185. Published online 2010 Mar 19. doi: 10.1007/s10545-010-9067-9

PMCID:: PMC3757259

Abstract Article PDF–127K

Select item 302667210.

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

L. Tabatabaie, L. W. J. Klomp, M. E. Rubio-Gozalbo, L. J. M. Spaapen, A. A. M. Haagen, L. Dorland, T. J. de Koning

J Inherit Metab Dis. 2011; 34(1): 181–184. Published online 2010 Nov 27. doi: 10.1007/s10545-010-9249-5

PMCID:: PMC3026672

Abstract Article PDF–88K

Select item 185273511.

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen

Am J Hum Genet. 2007 May; 80(5): 931–937. Published online 2007 Mar 30. doi: 10.1086/517888

PMCID:: PMC1852735

Abstract Article PDF–378K

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