Literature DB >> 3580562

Pathological findings in 5,10-methylene tetrahydrofolate reductase deficiency.

D R Beckman, G Hoganson, S Berlow, E F Gilbert.   

Abstract

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Year:  1987        PMID: 3580562

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  6 in total

Review 1.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

2.  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

3.  Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Authors:  Robert Steinfeld; Marcel Grapp; Ralph Kraetzner; Steffi Dreha-Kulaczewski; Gunther Helms; Peter Dechent; Ron Wevers; Salvatore Grosso; Jutta Gärtner
Journal:  Am J Hum Genet       Date:  2009-09       Impact factor: 11.025

Review 4.  Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain.

Authors:  R Surtees
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  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

6.  Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency.

Authors:  Nada Aljassim; Majid Alfadhel; Marwan Nashabat; Wafa Eyaid
Journal:  Mol Genet Metab Rep       Date:  2020-09-02
  6 in total

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