Literature DB >> 6700662

Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency.

A V Hoffbrand, E Tripp, B F Jackson, W E Luck, M Frater-Schröder.   

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Year:  1984        PMID： 6700662     DOI： 10.1056/nejm198403223101217

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


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  6 in total

Review 1.  Transcobalamin II deficiency: case report and review of the literature.

Authors:  Y Kaikov; L D Wadsworth; C A Hall; P C Rogers
Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

2.  Long-term follow up of patients with transcobalamin II deficiency.

Authors:  P T Monagle; G P Tauro
Journal:  Arch Dis Child       Date:  1995-03       Impact factor: 3.791

3.  Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Authors:  Siddharth Banka; Henk J Blom; John Walter; Majid Aziz; Jill Urquhart; Christopher M Clouthier; Gillian I Rice; Arjan P M de Brouwer; Emma Hilton; Grace Vassallo; Andrew Will; Desirée E C Smith; Yvo M Smulders; Ron A Wevers; Robert Steinfeld; Simon Heales; Yanick J Crow; Joelle N Pelletier; Simon Jones; William G Newman
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

4.  Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.

Authors:  Holger Cario; Desirée E C Smith; Henk Blom; Nenad Blau; Harald Bode; Karlheinz Holzmann; Ulrich Pannicke; Karl-Peter Hopfner; Eva-Maria Rump; Zuleya Ayric; Elisabeth Kohne; Klaus-Michael Debatin; Yvo Smulders; Klaus Schwarz
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

5.  Rat transcobalamin: cloning and regulation of mRNA expression.

Authors:  Seema Kalra; Shakuntla Seetharam; Raghunatha R Yammani; Bellur Seetharam
Journal:  J Physiol       Date:  2004-01-14       Impact factor: 5.182

6.  Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients.

Authors:  N Li; S Seetharam; D S Rosenblatt; B Seetharam
Journal:  Biochem J       Date:  1994-07-15       Impact factor: 3.857
  6 in total

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