Literature DB >> 4015175

Biotinidase deficiency: presymptomatic treatment.

S J Wallace.   

Abstract

Biotinidase deficiency presents with clinical signs of biotin deficiency at the age of 3 months, or soon after. In an infant in whom the diagnosis was made on cord blood, vision and hearing were normal before presymptomatic treatment with biotin. Physical and mental development are good at 14 months.

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Year:  1985        PMID： 4015175      PMCID： PMC1777380          DOI： 10.1136/adc.60.6.574

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  Biotinidase deficiency and the eye and ear.

Authors:  L S Taitz; A Green; I Strachan; K Bartlett; M Bennet
Journal:  Lancet       Date:  1983-10-15       Impact factor: 79.321

2.  Biotinidase deficiency: clinical course and biochemical findings.

Authors:  G Schubiger; U Caflisch; R Baumgartner; T Suormala; C Bachmann
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.  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

5.  Biotin-responsive alopecia and developmental regression.

Authors:  B M Charles; G Hosking; A Green; R Pollitt; K Bartlett; L S Taitz
Journal:  Lancet       Date:  1979-07-21       Impact factor: 79.321
  5 in total
  3 in total

1.  Biotinidase deficiency: a survey of 10 cases.

Authors:  H J Wastell; K Bartlett; G Dale; A Shein
Journal:  Arch Dis Child       Date:  1988-10       Impact factor: 3.791

2.  Cerebral metabolic changes in biotinidase deficiency.

Authors:  M Schürmann; V Engelbrecht; K Lohmeier; H G Lenard; U Wendel; J Gärtner
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

3.  Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

Authors:  Division of Biochemistry and Metabolism, Medical Genetics Branch Chinese Medical Association; Division of Genetics and Metabolism, Child Diseases and Health Care Branch Chinese Association for Maternal and Child Health; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2022-02-25
  3 in total

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