PMC Links for Books (Select 4888732) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 57857922.

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon, E. Drogari, S. Dubois, S. Evans, J. Gribben, G. Gugelmo, C. Heidenborg, I. Hunjan, I. L. Kok, B. Kumru, A. Liguori, D. Mayr, E. Megdad, U. Meyer, R. B. Oliveira, A. Pal, A. Pozzoli, R. Pretese, J. C. Rocha, S. Rosenbaum-Fabian, J. Serrano-Nieto, E. Sjoqvist, C. Timmer, L. White, T. van den Hurk, M. van Rijn, H. Zweers, M. Ziadlou, A. MacDonald

Orphanet J Rare Dis. 2018; 13: 21. Published online 2018 Jan 25. doi: 10.1186/s13023-018-0760-3

PMCID:: PMC5785792

Article PDF–576K

Select item 54124393.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang

Int J Mol Sci. 2017 Apr; 18(4): 857. Published online 2017 Apr 18. doi: 10.3390/ijms18040857

PMCID:: PMC5412439

Article PDF–2.9M

Select item 48390654.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau, Beat Steinmann

Orphanet J Rare Dis. 2016; 11: 44. Published online 2016 Apr 21. doi: 10.1186/s13023-016-0415-1

PMCID:: PMC4839065

Article PDF–1.0M

Select item 45447535.

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

Article PDF–960K

Select item 42133346.

Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

Genki Sugita, Hideaki Tsuyoshi, Koji Nishijima, Yoshio Yoshida

JIMD Rep. 2014; 14: 115–118. Published online 2014 Jan 28. doi: 10.1007/8904_2013_290

PMCID:: PMC4213334

Article PDF–95K

Select item 17159837.

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Y Kikawa, M Inuzuka, B Y Jin, S Kaji, J Koga, Y Yamamoto, K Fujisawa, I Hata, A Nakai, Y Shigematsu, H Mizunuma, A Taketo, M Mayumi, M Sudo

Am J Hum Genet. 1997 Oct; 61(4): 852–861. doi: 10.1086/514875

PMCID:: PMC1715983

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