Literature DB >> 28054128

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Ivan Karin1,2, Ingo Borggraefe3, Claudia B Catarino4,5, Christoph Kuhm4,5, Konstanze Hoertnagel6, Saskia Biskup6, Thomas Opladen7, Nenad Blau7, Florian Heinen3, Thomas Klopstock4,5,8,9.   

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Year:  2017        PMID： 28054128     DOI： 10.1007/s00415-016-8387-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  17 in total

1.  Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

Authors:  H Cario; H Bode; K-M Debatin; T Opladen; K Schwarz
Journal:  Neurology       Date:  2009-12-15       Impact factor: 9.910

2.  Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.

Authors:  Yu Kobayashi; Jun Tohyama; Tomoyuki Akiyama; Shinichi Magara; Hideshi Kawashima; Noriyuki Akasaka; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  Brain Dev       Date:  2016-10-12       Impact factor: 1.961

3.  Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.

Authors:  Françoise Delmelle; Beat Thöny; Philippe Clapuyt; Nenad Blau; Marie-Cécile Nassogne
Journal:  Eur J Paediatr Neurol       Date:  2016-06-13       Impact factor: 3.140

4.  Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Authors:  Belén Pérez-Dueñas; Aida Ormazábal; Claudio Toma; Barbara Torrico; Bru Cormand; Mercedes Serrano; Cristina Sierra; Elisa De Grandis; Merce Pineda Marfa; Angels García-Cazorla; Jaime Campistol; Juan M Pascual; Rafael Artuch
Journal:  Arch Neurol       Date:  2011-05

5.  Cerebral folate deficiency: life-changing supplementation with folinic acid.

Authors:  Flemming Juul Hansen; Nenad Blau
Journal:  Mol Genet Metab       Date:  2005-01-22       Impact factor: 4.797

6.  Hyperhomocysteinemia in children treated with antiepileptic drugs is normalized by folic acid supplementation.

Authors:  Martina Huemer; Bernd Ausserer; Gunther Graninger; Michael Hubmann; Christian Huemer; Kurt Schlachter; Arthur Tscharre; Hanno Ulmer; Burkhard Simma
Journal:  Epilepsia       Date:  2005-10       Impact factor: 5.864

7.  Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Authors:  Belén Pérez-Dueñas; Claudio Toma; Aida Ormazábal; Jordi Muchart; Francesc Sanmartí; Georgina Bombau; Mercedes Serrano; Angels García-Cazorla; Bru Cormand; Rafael Artuch
Journal:  J Inherit Metab Dis       Date:  2010-09-21       Impact factor: 4.982

8.  Hyperhomocysteinemia in children treated with sodium valproate and carbamazepine.

Authors:  A Verrotti; R Pascarella; D Trotta; T Giuva; G Morgese; F Chiarelli
Journal:  Epilepsy Res       Date:  2000-10       Impact factor: 3.045

9.  Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.

Authors:  Sandra P Toelle; David Wille; Bernhard Schmitt; Ianina Scheer; Beat Thöny; Barbara Plecko
Journal:  Epileptic Disord       Date:  2014-03       Impact factor: 1.819

Review 10.  Clinical recognition and aspects of the cerebral folate deficiency syndromes.

Authors:  Vincent Ramaekers; Jeffrey M Sequeira; Edward V Quadros
Journal:  Clin Chem Lab Med       Date:  2013-03-01       Impact factor: 3.694
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  5 in total

1.  Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer's Disease with a Change in Metabolic Profile.

Authors:  Jaleel Miyan; Charlotte Buttercase; Emma Beswick; Salma Miyan; Ghazaleh Moshkdanian; Naila Naz
Journal:  Metabolites       Date:  2022-05-24

2.  Supplement intervention associated with nutritional deficiencies in autism spectrum disorders: a systematic review.

Authors:  Yong-Jiang Li; Ya-Min Li; Da-Xiong Xiang
Journal:  Eur J Nutr       Date:  2017-09-07       Impact factor: 5.614

Review 3.  Dietary Supplement for Core Symptoms of Autism Spectrum Disorder: Where Are We Now and Where Should We Go?

Authors:  Yong-Jiang Li; Jian-Jun Ou; Ya-Min Li; Da-Xiong Xiang
Journal:  Front Psychiatry       Date:  2017-08-23       Impact factor: 4.157

Review 4.  Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis.

Authors:  Daniel A Rossignol; Richard E Frye
Journal:  J Pers Med       Date:  2021-11-03

Review 5.  Repetitive Restricted Behaviors in Autism Spectrum Disorder: From Mechanism to Development of Therapeutics.

Authors:  Junbin Tian; Xuping Gao; Li Yang
Journal:  Front Neurosci       Date:  2022-03-02       Impact factor: 4.677
  5 in total

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