Literature DB >> 3300737

Inherited defects of vitamin B12 metabolism.

B A Cooper, D S Rosenblatt.   

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Year:  1987        PMID： 3300737     DOI： 10.1146/annurev.nu.07.070187.001451

Source DB:  PubMed          Journal:  Annu Rev Nutr        ISSN： 0199-9885            Impact factor:   11.848


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  25 in total

1.  Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Authors:  F A Wijburg; D S Rosenblatt; G D Vos; J W Oorthuys; L G van't Hek; B J Poorthuis; M K Sanders; R B Schutgens
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

2.  Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.

Authors:  Peter H Nissen; Maria Nordwall; Elke Hoffmann-Lücke; Boe S Sorensen; Ebba Nexo
Journal:  J Inherit Metab Dis       Date:  2010-07-06       Impact factor: 4.982

Review 3.  Hyperhomocysteinaemia and associated disease.

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

4.  Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

Authors:  R Jansen; F D Ledley
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

5.  The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system.

Authors:  Shao-Chiang Lai; Yasumi Nakayama; Jeffrey M Sequeira; Bogdan J Wlodarczyk; Robert M Cabrera; Richard H Finnell; Teodoro Bottiglieri; Edward V Quadros
Journal:  FASEB J       Date:  2013-02-21       Impact factor: 5.191

6.  Response to: 'Methylcobalamine is effective in peripheral neuropathies'.

Authors:  K Thakkar; G Billa
Journal:  Eur J Clin Nutr       Date:  2015-01-21       Impact factor: 4.016

Review 7.  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

8.  Endoscopic evaluation of patients with partial gastrectomy and iron deficiency.

Authors:  Gordon C Hunt; Douglas O Faigel
Journal:  Dig Dis Sci       Date:  2002-03       Impact factor: 3.199

Review 9.  Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Authors:  D Sean Froese; Roy A Gravel
Journal:  Expert Rev Mol Med       Date:  2010-11-29       Impact factor: 5.600

10.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183
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