Literature DB >> 1866027

Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.

J M Visy1, P Le Coz, B Chadefaux, C Fressinaud, F Woimant, J Marquet, J Zittoun, J Visy, J M Vallat, M Haguenau.   

Abstract

Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.

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Year:  1991        PMID： 1866027     DOI： 10.1212/wnl.41.8.1313

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  15 in total

Review 1.  Hyperhomocysteinaemia and associated disease.

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

2.  Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

Authors:  C Tonetti; J Amiel; A Munnich; J Zittoun
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

Review 3.  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

4.  Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult.

Authors:  F Pasquier; F Lebert; H Petit; J Zittoun; J Marquet
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154

5.  Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Authors:  Carole Tonetti; Jean-Marie Saudubray; Bernard Echenne; Pierre Landrieu; Stéphane Giraudier; Jacqueline Zittoun
Journal:  Eur J Pediatr       Date:  2003-05-06       Impact factor: 3.183

6.  Predictors of stroke mortality in elderly people from the general population. The CArdiovascular STudy in the ELderly.

Authors:  A Mazza; A C Pessina; A Pavei; R Scarpa; V Tikhonoff; E Casiglia
Journal:  Eur J Epidemiol       Date:  2001       Impact factor: 8.082

Review 7.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

8.  Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

Authors:  L Thuillier; B Chadefaux-Vekemans; J P Bonnefont; A Kara; J Aupetit; C Rochette; G Montalescot; M C Couty; P Kamoun; A Ankri
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

9.  Hyperhomocysteinaemia and premature coronary artery disease in the Chinese.

Authors:  Y I Lolin; J E Sanderson; S K Cheng; C F Chan; C P Pang; K S Woo; J R Masarei
Journal:  Heart       Date:  1996-08       Impact factor: 5.994

10.  Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Authors:  Derek Wong; Silvia Tortorelli; Lisa Bishop; Elizabeth A Sellars; Lisa A Schimmenti; Natalie Gallant; Carlos E Prada; Robert J Hopkin; Nancy D Leslie; Susan A Berry; David S Rosenblatt; Amy L Fair; Dietrich Matern; Kimiyo Raymond; Devin Oglesbee; Piero Rinaldo; Dimitar Gavrilov
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822
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