PMC Links for Books (Select 1952942) - PMC

Select item 87694941.

Jocelyn Toohill, Barbara Soong, Vicki Flenady, Cochrane Pregnancy and Childbirth Group

Cochrane Database Syst Rev. 2008 Jul; 2008(3): CD004230. Published online 2008 Jul 16. doi: 10.1002/14651858.CD004230.pub2

PMCID:: PMC8769494

Article PDF–149K

Select item 85187202.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

Alessandro Rossi, Irene J. Hoogeveen, Charlotte M. A. Lubout, Foekje de Boer, Marieke J. Fokkert‐Wilts, Iris L. Rodenburg, Esther van Dam, Sarah C. Grünert, Diego Martinelli, Maurizio Scarpa, CONNECT MetabERN Collaboration Group, Hanka Dekker, Sebastiaan T. te Boekhorst, Francjan J. van Spronsen, Terry G. J. Derks

J Inherit Metab Dis. 2021 Sep; 44(5): 1124–1135. Published online 2021 May 4. doi: 10.1002/jimd.12386

PMCID:: PMC8518720

Article PDF–2.3M

Select item 78916433.

Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study

Irene J. Hoogeveen, Foekje de Boer, Willemijn F. Boonstra, Caroline J. van der Schaaf, Ulrike Steuerwald, Anita J. Sibeijn‐Kuiper, Riemer J. K. Vegter, Johannes H. van der Hoeven, M. Rebecca Heiner‐Fokkema, Kieran C. Clarke, Pete J. Cox, Terry G. J. Derks, Jeroen A. L. Jeneson

J Inherit Metab Dis. 2021 Jan; 44(1): 226–239. Published online 2020 Sep 7. doi: 10.1002/jimd.12302

PMCID:: PMC7891643

Article PDF–2.3M

Select item 76054304.

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

M. Rebecca Heiner-Fokkema, Jennifer van der Krogt, Foekje de Boer, Marieke J. Fokkert-Wilts, Ronald G. H. J. Maatman, Irene J. Hoogeveen, Terry G. J. Derks

Genet Med. 2020; 22(11): 1915–1916. Published online 2020 Jul 13. doi: 10.1038/s41436-020-0878-2

PMCID:: PMC7605430

Article PDF–272K

Select item 74972895.

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

Article PDF–2.5M

Select item 73834796.

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Alessandro Rossi, Irene J. Hoogeveen, Vanessa B. Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, Andrea Bordugo, Alice Dianin, Carmen Campana, Miriam Rigoldi, Priya S. Kishnani, Surekha Pendyal, Pietro Strisciuglio, Serena Gasperini, Giancarlo Parenti, Rossella Parini, Sabrina Paci, Daniela Melis, Terry G. J. Derks

J Inherit Metab Dis. 2020 Jul; 43(4): 770–777. Published online 2020 Feb 26. doi: 10.1002/jimd.12224

PMCID:: PMC7383479

Article PDF–1.1M

Select item 70791487.

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

Fabian Peeks, Willemijn F. Boonstra, Lut de Baere, Camilla Carøe, Thomas Casswall, Damián Cohen, Katherine Cowan, Iris Ferrecchia, Alberto Ferriani, Caroline Gimbert, Marcus Landgren, Nerea L. Maldonado, Jason McMillan, Antal Nemeth, Niccolò Seidita, Ute Stachelhaus‐Theimer, David A. Weinstein, Terry G. J. Derks

J Inherit Metab Dis. 2020 Mar; 43(2): 279–289. Published online 2019 Nov 13. doi: 10.1002/jimd.12178

PMCID:: PMC7079148

Article PDF–1.4M

Select item 67854558.

Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu, Yu Sun, Wenjuan Qiu

Mol Genet Genomic Med. 2019 Oct; 7(10): e00945. Published online 2019 Aug 27. doi: 10.1002/mgg3.945

PMCID:: PMC6785455

Article PDF–789K

Select item 65030219.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Emanuela Ponzi, Viola Alesi, Francesca R. Lepri, Silvia Genovese, Sara Loddo, Mafalda Mucciolo, Antonio Novelli, Carlo Dionisi‐Vici, Arianna Maiorana

Mol Genet Genomic Med. 2019 May; 7(5): e634. Published online 2019 Mar 27. doi: 10.1002/mgg3.634

PMCID:: PMC6503021

Article PDF–657K

Select item 498740110.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, René Santer, Elaine Murphy, Patrick J. McKiernan, Ulrike Steuerwald, Nicholas J. Beauchamp, Joanna Taybert, Pascal Laforêt, François M. Petit, Aurélie Hubert, Philippe Labrune, G. Peter A. Smit, Terry G. J. Derks

J Inherit Metab Dis. 2016; 39: 697–704. Published online 2016 Apr 22. doi: 10.1007/s10545-016-9932-2

PMCID:: PMC4987401

Article PDF–1.3M

Select item 431216911.

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos, Celia Rodd

CMAJ. 2015 Feb 3; 187(2): E68–E73. doi: 10.1503/cmaj.140840

PMCID:: PMC4312169

Article PDF–114K

Select item 383262712.

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

A. V. Bernier, C. P. Sentner, C. E. Correia, D. W. Theriaque, J. J. Shuster, G. P. A. Smit, D. A. Weinstein

J Inherit Metab Dis. Author manuscript; available in PMC 2013 Nov 18.

Published in final edited form as: J Inherit Metab Dis. 2008 Dec; 31(6): 10.1007/s10545-008-0919-5. Published online 2008 Aug 19. doi: 10.1007/s10545-008-0919-5