Literature DB >> 6881934

Folate metabolism disorder in Kearns-Sayre syndrome.

M Dougados, J Zittoun, D Laplane, P Castaigne.   

Abstract

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Year:  1983        PMID： 6881934     DOI： 10.1002/ana.410130624

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  5 in total

1.  Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.

Authors:  R A Wevers; S I Hansen; J L van Hellenberg Hubar; J Holm; M Høier-Madsen; P J Jongen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-02       Impact factor: 10.154

2.  Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Authors:  Marta Batllori; Marta Molero-Luis; Aida Ormazabal; Raquel Montero; Cristina Sierra; Antonia Ribes; Julio Montoya; Eduardo Ruiz-Pesini; Mar O'Callaghan; Leticia Pias; Andrés Nascimento; Francesc Palau; Judith Armstrong; Delia Yubero; Juan D Ortigoza-Escobar; Angels García-Cazorla; Rafael Artuch
Journal:  J Inherit Metab Dis       Date:  2018-07-04       Impact factor: 4.982

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

Authors:  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
Journal:  Orphanet J Rare Dis       Date:  2014-12-24       Impact factor: 4.123

Review 4.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822

5.  Metabolic causes of epileptic encephalopathy.

Authors:  Joe Yuezhou Yu; Phillip L Pearl
Journal:  Epilepsy Res Treat       Date:  2013-05-22
  5 in total

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