Literature DB >> 6438396

Biotinidase deficiency: clinical course and biochemical findings.

G Schubiger, U Caflisch, R Baumgartner, T Suormala, C Bachmann.   

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Year:  1984        PMID: 6438396     DOI: 10.1007/bf01801771

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  7 in total

1.  [PURIFICATION AND PROPERTIES OF BIOTINIDASE FROM SWINE KIDNEY AND LACTOBACILLUS CASEI].

Authors:  J KNAPPE; W BRUEMMER; K BIEDERBICK
Journal:  Biochem Z       Date:  1963

2.  Organic acids in urine: sample preparation for GC/MS.

Authors:  C Bachmann; R Bühlmann; J P Colombo
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

Authors:  B Wolf; R E Grier; W D Parker; S I Goodman; R J Allen
Journal:  N Engl J Med       Date:  1983-01-20       Impact factor: 91.245

4.  Short chain fatty acids in plasma and brain: quantitative determination by gas chromatography.

Authors:  C Bachmann; J P Colombo; J Berüter
Journal:  Clin Chim Acta       Date:  1979-03-01       Impact factor: 3.786

5.  Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.

Authors:  E R Baumgartner; T Suormala; H Wick; J P Bonjour
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Biotin deficiency in chicks fed a wheat-based diet.

Authors:  M Frigg; G Brubacher
Journal:  Int J Vitam Nutr Res       Date:  1976       Impact factor: 1.784

7.  Phenotypic variation in biotinidase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien; W D Parker; D M Howell; D L Hurst
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406

  7 in total
  5 in total

1.  Biotinidase deficiency: presymptomatic treatment.

Authors:  S J Wallace
Journal:  Arch Dis Child       Date:  1985-06       Impact factor: 3.791

2.  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

3.  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

4.  Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  Erin T Strovel; Tina M Cowan; Anna I Scott; Barry Wolf
Journal:  Genet Med       Date:  2017-07-05       Impact factor: 8.822

Review 5.  Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Authors:  Ebru Canda; Sema Kalkan Uçar; Mahmut Çoker
Journal:  Pediatric Health Med Ther       Date:  2020-05-04
  5 in total

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