Literature DB >> 6819258

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.

R Baumgartner, T Suormala, H Wick, J Geisert, W Lehnert.   

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Year:  1982        PMID: 6819258

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


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  8 in total

Review 1.  The sodium/multivitamin transporter: a multipotent system with therapeutic implications.

Authors:  Matthias Quick; Lei Shi
Journal:  Vitam Horm       Date:  2015-03-07       Impact factor: 3.421

Review 2.  Biotinidase deficiency: a novel vitamin recycling defect.

Authors:  B Wolf; R E Grier; J R Secor McVoy; G S Heard
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 3.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; W G Sherwood; D Applegarth; L Wong; J Haworth; P Goodyer; R Casey; L A Zaleski
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

5.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.

Authors:  T Suormala; H Wick; J P Bonjour; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

7.  Rett syndrome revisited: a patient with biotin dependency.

Authors:  C Bachmann; J Schaub; J P Colombo; B J Burri; L Sweetman; B Wolf
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

8.  Biotinidase deficiency: factors responsible for the increased biotin requirement.

Authors:  E R Baumgartner; T Suormala; H Wick; J Bausch; J P Bonjour
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  8 in total

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