PMC Links for Books (Select 1473356) - PMC

Select item 64988331.

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

Patricia Dubot, Léonardo Astudillo, Guy Touati, Julien Baruteau, Pierre Broué, Sandrine Roche, Frédérique Sabourdy, Thierry Levade

JIMD Rep. 2019 Mar; 46(1): 11–15. Published online 2019 Mar 14. doi: 10.1002/jmd2.12020

PMCID:: PMC6498833

Abstract Article PDF–821K

Select item 54293602.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 54134533.

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

Karolina M. Stepien, Anthony S. Wierzbicki, Bwee T. Poll-The, Hans R. Waterham, Christian J. Hendriksz

JIMD Rep. 2017; 33: 49–53. Published online 2016 Aug 13. doi: 10.1007/8904_2016_569

PMCID:: PMC5413453

Abstract Article PDF–189K

Select item 17392464.

Smell testing: an additional tool for identification of adult Refsum's disease

F Gibberd, M Feher, M Sidey, A Wierzbicki

J Neurol Neurosurg Psychiatry. 2004 Sep; 75(9): 1334–1336. doi: 10.1136/jnnp.2003.026690

PMCID:: PMC1739246

Summary PDF–52K

Select item 17372955.

Refsum's disease in an Arabian family

E FERTL, D FOLDY, K VASS, E AUFF, C VASS, B MOLZER, H BERNHEIMER

J Neurol Neurosurg Psychiatry. 2001 Apr; 70(4): 564–565. doi: 10.1136/jnnp.70.4.564

PMCID:: PMC1737295

Summary PDF–170K

Select item 3792396.

Identification of PEX7 as the Second Gene Involved in Refsum Disease

Daan M. van den Brink, Pedro Brites, Janet Haasjes, Anthony S. Wierzbicki, John Mitchell, Michelle Lambert-Hamill, Jacqueline de Belleroche, Gerbert A. Jansen, Hans R. Waterham, Ronald J. A. Wanders

Am J Hum Genet. 2003 Feb; 72(2): 471–477. Published online 2003 Jan 9. doi: 10.1086/346093

PMCID:: PMC379239

Abstract Article PDF–211K

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