Literature DB >> 7007598

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.

J P Harpey, D S Rosenblatt, B A Cooper, G Le Moël, C Roy, J Lafourcade.   

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Year:  1981        PMID： 7007598     DOI： 10.1016/s0022-3476(81)80660-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  15 in total

Review 1.  Hyperhomocysteinaemia and associated disease.

Authors:  R C Bakker; D P Brandjes
Journal:  Pharm World Sci       Date:  1997-06

Review 2.  The role of vitamins in the pathogenesis and treatment of hyperhomocyst(e)inaemia.

Authors:  J B Ubbink
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

3.  Megavitamin therapy in inherited metabolic disorders.

Authors:  S C Kalhan
Journal:  Indian J Pediatr       Date:  1981 Sep-Oct       Impact factor: 1.967

Review 4.  Isolated remethylation disorders: do our treatments benefit patients?

Authors:  Manuel Schiff; Jean-François Benoist; Bogdana Tilea; Nicolas Royer; Stéphane Giraudier; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

5.  Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  U Wendel; H J Bremer
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

Review 6.  Pteridines and mono-amines: relevance to neurological damage.

Authors:  I Smith; D W Howells; K Hyland
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

7.  Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency.

Authors:  D Li; N Karp; Q Wu; X-L Wang; S Melnyk; S J James; R Rozen
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.982

8.  Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

Authors:  P Goyette; P Frosst; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

9.  Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

Authors:  A M Engbersen; D G Franken; G H Boers; E M Stevens; F J Trijbels; H J Blom
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

10.  Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

Authors:  T Kishi; I Kawamura; Y Harada; T Eguchi; N Sakura; K Ueda; K Narisawa; D S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
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