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Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Nutrients, 2022-07, Vol.14 (15), p.3096

2022

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Folate receptor α deficiency – Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.387-403

2024

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Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

Brain (London, England : 1878), 2012-07, Vol.135 (Pt 7), p.2022-2031

2012

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Vitamin B12 and folate deficiency in later life

Age and ageing, 2004-01, Vol.33 (1), p.34-41

2004

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Homozygous Mutation in the MTHFS Gene May Contribute to the Development of Cerebral Folate Deficiency Syndrome

Reproductive and developmental medicine, 2020-04, Vol.4 (2), p.72-80

2020

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Effect of Maternal Folate Use on Offsprings' Cerebellar Morphometric Parameters: An Experimental Study in A Rat Model

International journal of anatomy and research, 2023-10, Vol.11 (3), p.8685-8691

2023

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Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children

Clinica chimica acta, 2017-02, Vol.465, p.5-10

2017

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Clinical Implications of Folate Transport in the Central Nervous System

Trends in pharmacological sciences (Regular ed.), 2020-05, Vol.41 (5), p.349-361

2020

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Mechanisms of Membrane Transport of Folates into Cells and Across Epithelia

Annual review of nutrition, 2011-08, Vol.31 (1), p.177-201

2011

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

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.266-270

2017

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

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.709-713

2016

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Histone H3 lysine 4 trimethylation in sperm is transmitted to the embryo and associated with diet-induced phenotypes in the offspring

Developmental cell, 2021-03, Vol.56 (5), p.671-686.e6

2021

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The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption

Molecular aspects of medicine, 2017-02, Vol.53, p.57-72

2017

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Folate status in the US population 20 y after the introduction of folic acid fortification

The American journal of clinical nutrition, 2019-11, Vol.110 (5), p.1088-1097

2019

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Folate and Its Impact on Cancer Risk

Current nutrition reports, 2018-09, Vol.7 (3), p.70-84

2018

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Acute Reversible Motor Predominant Polyradiculoneuropathy among Thai Prisoners after the Outbreak of H3N2 Influenza: A Case Series

Journal of Health Science and Medical Research (JHSMR), 2021

2021

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The Association Between Folate and Alzheimer's Disease: A Systematic Review and Meta-Analysis

Frontiers in neuroscience, 2021-04, Vol.15, p.661198-661198

2021

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An Osteopathic Approach to Anemia

Osteopathic family physician, 2022-10, Vol.14 (5)

2022

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Effects of folate deficiency and sex on carcinogenesis in a mouse model of oral cancer

Oral diseases, 2023-09

2023

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Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2526-2531

2021

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Screening and Diagnosis of Micronutrient Deficiencies Before and After Bariatric Surgery

Obesity surgery, 2013-10, Vol.23 (10), p.1581-1589

2013

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Folate, folic acid and 5-methyltetrahydrofolate are not the same thing

Xenobiotica, 2014-05, Vol.44 (5), p.480-488

2014

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FOLATE METABOLISM IN PREGNANCY

Paëmi Sino, 2022-12, Vol.24 (4), p.502-513

2022

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Cerebral folate receptor autoantibodies in autism spectrum disorder

Molecular psychiatry, 2013-03, Vol.18 (3), p.369-381

2013

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Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Folate receptor α deficiency – Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

Vitamin B12 and folate deficiency in later life

Homozygous Mutation in the MTHFS Gene May Contribute to the Development of Cerebral Folate Deficiency Syndrome

Effect of Maternal Folate Use on Offsprings' Cerebellar Morphometric Parameters: An Experimental Study in A Rat Model

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children

Clinical Implications of Folate Transport in the Central Nervous System

An Integrated Understanding of the Rapid Metabolic Benefits of a Carbohydrate-Restricted Diet on Hepatic Steatosis in Humans

Mechanisms of Membrane Transport of Folates into Cells and Across Epithelia

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

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

Histone H3 lysine 4 trimethylation in sperm is transmitted to the embryo and associated with diet-induced phenotypes in the offspring

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption

Folate status in the US population 20 y after the introduction of folic acid fortification

Folate and Its Impact on Cancer Risk

Acute Reversible Motor Predominant Polyradiculoneuropathy among Thai Prisoners after the Outbreak of H3N2 Influenza: A Case Series

The Association Between Folate and Alzheimer's Disease: A Systematic Review and Meta-Analysis

An Osteopathic Approach to Anemia

Effects of folate deficiency and sex on carcinogenesis in a mouse model of oral cancer

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene

Screening and Diagnosis of Micronutrient Deficiencies Before and After Bariatric Surgery

Folate, folic acid and 5-methyltetrahydrofolate are not the same thing

FOLATE METABOLISM IN PREGNANCY

Cerebral folate receptor autoantibodies in autism spectrum disorder

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