Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency-Reference-Cited by-同舟云学术

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Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency

Published:2009-05-12 Issue:2 Volume:169 Page:241-243
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Ucar Sema Kalkan,Koroğlu Özge Altun,Berk Ömer,Yalaz Mehmet,Kültürsay Nilgün,Blom Henk J.,Coker Mahmut

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-009-0997-x.pdf

Reference12 articles.

1. Abeling NG, van Gennip AH, Blom H et al (1999) Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency. J Inherit Metab Dis 22:240–242

2. Al Tawari AA, Ramadan DG, Neubauer D et al (2002) An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait. Brain Dev 24:304–309

3. Holme E, Kjellman B, Ronge E (1989) Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 64:1061–1064

4. Lawson-Yuen A, Levy HL (2006) The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab 88:201–207

5. Matthews A, Johnson TN, Rostami-Hodjegan A et al (2002) An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. Br J Clin Pharmacol 54(2):140–146

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1. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency;BMC Medical Genomics;2022-12-25

2. Disorders of Folate Metabolism and Transport;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

3. Early treatment using betaine and methionine for a neonate with MTHFR deficiency;Pediatrics International;2019-11-28

4. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency;Journal of Inherited Metabolic Disease;2016-11-30

5. Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency;JAMA Neurology;2014-02-01

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