Literature DB >> 779426

Vitamin-responsive inherited metabolic disorders.

L E Rosenberg.   

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Year:  1976        PMID： 779426     DOI： 10.1007/978-1-4615-8264-9_1

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  8 in total

Review 1.  Vitamins: an evolutionary perspective.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 2.  The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics.

Authors:  C R Scriver
Journal:  Am J Hum Genet       Date:  1979-05       Impact factor: 11.025

3.  Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.

Authors:  H F Willard; L E Rosenberg
Journal:  Biochem Genet       Date:  1979-02       Impact factor: 1.890

4.  Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.

Authors:  I S Mellman; P F Lin; F H Ruddle; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-01       Impact factor: 11.205

5.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

6.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

Authors:  U Langenbeck
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

7.  Biochemical and therapeutical studies in a case of atrophia gyrata.

Authors:  W Behrens-Baumann; U König; K Schröder; I Hansmann; U Langenbeck
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

8.  Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1985-09       Impact factor: 14.808
  8 in total

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