Literature DB >> 2897628

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

R Carmel1, D Watkins, S I Goodman, D S Rosenblatt.   

Abstract

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Year:  1988        PMID： 2897628     DOI： 10.1056/NEJM198806303182607

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  16 in total

Review 1.  Multiple sclerosis and vitamin B12 metabolism.

Authors:  E H Reynolds
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-05       Impact factor: 10.154

Review 2.  Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy.

Authors:  U von Schenck; C Bender-Götze; B Koletzko
Journal:  Arch Dis Child       Date:  1997-08       Impact factor: 3.791

3.  Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.

Authors:  A C Joslin; R Green; J B German; M C Lange
Journal:  Genes Nutr       Date:  2014-08-05       Impact factor: 5.523

Review 4.  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

5.  Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.

Authors:  R Gold; U Bogdahn; L Kappos; K V Toyka; E R Baumgartner; B Fowler; U Wendel
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-01       Impact factor: 10.154

6.  Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Authors:  M Huemer; C Bürer; P Ješina; V Kožich; M A Landolt; T Suormala; B Fowler; P Augoustides-Savvopoulou; E Blair; K Brennerova; A Broomfield; L De Meirleir; G Gökcay; J Hennermann; P Jardine; J Koch; S Lorenzl; A S Lotz-Havla; J Noss; R Parini; H Peters; B Plecko; F J Ramos; A Schlune; K Tsiakas; M Zerjav Tansek; M R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2014-12-20       Impact factor: 4.982

Review 7.  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

8.  Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Authors:  B Fowler; R B Schutgens; D S Rosenblatt; G P Smit; J Lindemans
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

9.  Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

Authors:  A Wilson; D Leclerc; F Saberi; E Campeau; H Y Hwang; B Shane; J A Phillips; D S Rosenblatt; R A Gravel
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

Review 10.  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
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