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Items: 11

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

Article PDF–776K

Select item 57400422.

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

Deeksha S. Bali, Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, Priya S. Kishnani

JIMD Rep. 2017; 37: 63–72. Published online 2017 Mar 12. doi: 10.1007/8904_2017_8

PMCID:: PMC5740042

Article PDF–252K

Select item 52339193.

A new variant in PHKA2 is associated with glycogen storage disease type IXa

Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa

Mol Genet Metab Rep. 2017 Mar; 10: 52–55. Published online 2017 Jan 12. doi: 10.1016/j.ymgmr.2017.01.003

PMCID:: PMC5233919

Article PDF–573K

Select item 50244484.

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A. Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid

Orphanet J Rare Dis. 2016; 11: 126. Published online 2016 Sep 15. doi: 10.1186/s13023-016-0510-3

PMCID:: PMC5024448

Article PDF–410K

Select item 48390685.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe

BMC Med Genet. 2016; 17: 33. Published online 2016 Apr 21. doi: 10.1186/s12881-016-0295-1

PMCID:: PMC4839068

Article PDF–954K

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

Article PDF–960K

Select item 39529477.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Deeksha S. Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Mol Genet Metab. 2014 Mar; 111(3): 309–313. Published online 2013 Dec 19. doi: 10.1016/j.ymgme.2013.12.008