Early treatment using betaine and methionine for a neonate with MTHFR deficiency
Author:
Affiliation:
1. Division of Neonatal Intensive Care Center for Perinatal Medicine Nara Medical University Hospital Nara Japan
2. Department of Pediatrics Nara Medical University Hospital Nara Japan
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14018
Reference5 articles.
1. Correction to: Reversal of homocysteine-induced neurotoxicity in rat hippocampal neurons by astaxanthin: evidences for mitochondrial dysfunction and signaling crosstalk
2. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
3. Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency
4. Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency
5. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
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1. Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome;Brain Sciences;2024-06-21
2. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency;BMC Medical Genomics;2022-12-25
3. Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation;International Journal of Neonatal Screening;2021-07-07
4. Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns;Clinical Biochemistry;2021-03
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