PMC Articles for MedGen (Select 893131) - PMC

Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye

Brain Sci. 2020 Nov; 10(11): 762. Published online 2020 Oct 22. doi: 10.3390/brainsci10110762

PMCID:: PMC7690394

Abstract Article PDF–4.4M

Select item 76911025.

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng

BMC Med Genet. 2020; 21: 235. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01162-3

PMCID:: PMC7691102

Abstract Article PDF–839K

Select item 78958566.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

J Med Genet. 2021 Jul; 58(7): 484–494. Published online 2020 Aug 20. doi: 10.1136/jmedgenet-2020-106987

PMCID:: PMC7895856

Abstract Article PDF–3.5M

Select item 47276717.

Diagnosis and management of cerebral folate deficiency: A form of folinic acid-responsive seizures

Raidah S. Al-Baradie, Mohammed W. Chudary

Neurosciences (Riyadh) 2014 Oct; 19(4): 312–316.

PMCID:: PMC4727671

Abstract Article PDF–497K

Select item 82604848.

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

Maria T. Papadopoulou, Efterpi Dalpa, Michalis Portokalas, Irene Katsanika, Katerina Tirothoulaki, Martha Spilioti, Spyros Gerou, Barbara Plecko, Athanasios E. Evangeliou

JIMD Rep. 2021 Jul; 60(1): 3–9. Published online 2021 Jun 4. doi: 10.1002/jmd2.12206

PMCID:: PMC8260484

Abstract Article PDF–1.2M

Select item 43871959.

Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome

Joshua L. Bonkowsky, Vincent T. Ramaekers, Edward V. Quadros, Michael Lloyd

J Child Neurol. Author manuscript; available in PMC 2015 Apr 7.

Published in final edited form as: J Child Neurol. 2008 Dec; 23(12): 1460–1463. Published online 2008 Oct 14. doi: 10.1177/0883073808318546

PMCID:: PMC4387195

Abstract Article PDF–359K

Select item 862215010.

Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis

Daniel A. Rossignol, Richard E. Frye

J Pers Med. 2021 Nov; 11(11): 1141. Published online 2021 Nov 3. doi: 10.3390/jpm11111141

Correction in:: J Pers Med. 2022 May; 12(5): 721.

PMCID:: PMC8622150

Abstract Article PDF–895K

Select item 914382511.

Correction: Rossignol, D.A.; Frye, R.E. Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J. Pers. Med. 2021, 11, 1141

Daniel A. Rossignol, Richard E. Frye

J Pers Med. 2022 May; 12(5): 721. Published online 2022 Apr 29. doi: 10.3390/jpm12050721

Corrects:: J Pers Med. 2021 Nov; 11(11): 1141.

PMCID:: PMC9143825

Correction PDF–168K

Select item 430258612.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin, Aida Ormazabal, Mercè Pineda, María T García-Silva, Rafael Artuch

Orphanet J Rare Dis. 2014; 9: 217. Published online 2014 Dec 24. doi: 10.1186/s13023-014-0217-2

PMCID:: PMC4302586

Abstract Article PDF–1.1M

Select item 271594313.

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome

Vincent T Ramaekers, Jeffrey M Sequeira, Nenad Blau, Edward V Quadros

Dev Med Child Neurol. Author manuscript; available in PMC 2009 Jul 27.

Published in final edited form as: Dev Med Child Neurol. 2008 May; 50(5): 346–352. Published online 2008 Mar 19. doi: 10.1111/j.1469-8749.2008.02053.x

PMCID:: PMC2715943

Abstract Article PDF–697K

Select item 985546814.

KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency

Xiao Han, Xuanye Cao, Robert M. Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T. Ramaekers, Richard H. Finnell, Yunping Lei

Biology (Basel) 2023 Jan; 12(1): 74. Published online 2022 Dec 31. doi: 10.3390/biology12010074

PMCID:: PMC9855468

Abstract Article PDF–1.8M

Select item 1012336915.

Cerebral folate deficiency: A report of two affected siblings

Rabah Almahmoud, Mohammed Mekki, Ayman W. El-Hattab

Mol Genet Metab Rep. 2023 Jun; 35: 100975. Published online 2023 Apr 12. doi: 10.1016/j.ymgmr.2023.100975

PMCID:: PMC10123369

Abstract Article PDF–769K

Select item 1069641316.

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung

Mol Genet Metab Rep. 2024 Mar; 38: 101023. Published online 2023 Nov 21. doi: 10.1016/j.ymgmr.2023.101023

PMCID:: PMC10696413

Abstract Article PDF–579K

Select item 303570617.

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo Smulders, Klaus Schwarz

Am J Hum Genet. 2011 Feb 11; 88(2): 226–231. doi: 10.1016/j.ajhg.2011.01.007

PMCID:: PMC3035706

Abstract Article PDF–382K

Select item 1062922918.

FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years

Carlo Manco, Rosa Cortese, Manfredi Alberti, Silvia Bianchi, Lucia Monti, Nicola De Stefano, Carla Battisti

Neurol Genet. 2023 Dec; 9(6): e200104. Published online 2023 Oct 24. doi: 10.1212/NXG.0000000000200104

PMCID:: PMC10629229

Abstract Article PDF–216K

Select item 303570719.

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Siddharth Banka, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian I. Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

Am J Hum Genet. 2011 Feb 11; 88(2): 216–225. doi: 10.1016/j.ajhg.2011.01.004

PMCID:: PMC3035707

Abstract Article PDF–969K

Select item 511100520.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

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