Cerebral folate deficiency: A neurometabolic syndrome?-Reference-Cited by-同舟云学术

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Cerebral folate deficiency: A neurometabolic syndrome?

Published:2011-11 Issue:3 Volume:104 Page:369-372
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mangold Sarah,Blau Nenad,Opladen Thomas,Steinfeld Robert,Weßling Britta,Zerres Klaus,Häusler Martin

Funder

Swiss National Science Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. Cerebral folate deficiency;Ramaekers;Dev. Med. Child Neurol.,2004

2. Reduced folate transport to the CNS in female Rett patients;Ramaekers;Neurology,2003

3. Cerebrospinal fluid pterins and folates in Aicardi–Goutieres syndrome: a new phenotype;Blau;Neurology,2003

4. Mitochondrial diseases associated with cerebral folate deficiency;Garcia-Cazorla;Neurology,2008

5. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption;Qiu;Cell,2006

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1. KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency;Biology;2022-12-31

2. The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and/or Refractory Epilepsy;Neurology India;2021-09

3. Neurological Disease;Clinical Molecular Diagnostics;2021

4. CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression;Journal of Medical Genetics;2020-08-20

5. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition;Journal of the Neurological Sciences;2019-01

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