Literature DB >> 7843204

Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.

H D Bakker, M Westra, W C Overweg-Plandsoen, G van Waveren, J H Sillevis Smitt, N G Abeling, R J Wanders, R B Schutgens, A H van Gennip.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7843204     DOI： 10.1007/bf01972899

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  7 in total

1.  Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.

Authors:  J Greter; E Holme; S Lindstedt; M Koivikko
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

2.  Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.

Authors:  G Mitchell; H Ogier; A Munnich; J M Saudubray; J Shirrer; C Charpentier; F Rocchiccioli
Journal:  Neuropediatrics       Date:  1986-08       Impact factor: 1.947

3.  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

4.  Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.

Authors:  N Diamantopoulos; M J Painter; B Wolf; G S Heard; C Roe
Journal:  Neurology       Date:  1986-08       Impact factor: 9.910

5.  Neurologic symptoms of biotinidase deficiency: possible explanation.

Authors:  S F Suchy; J S McVoy; B Wolf
Journal:  Neurology       Date:  1985-10       Impact factor: 9.910

6.  Basal ganglia calcifications in a case of biotinidase deficiency.

Authors:  P E Schulz; S P Weiner; J W Belmont; M A Fishman
Journal:  Neurology       Date:  1988-08       Impact factor: 9.910

7.  Biotinidase deficiency: initial clinical features and rapid diagnosis.

Authors:  B Wolf; G S Heard; K A Weissbecker; J R McVoy; R E Grier; R T Leshner
Journal:  Ann Neurol       Date:  1985-11       Impact factor: 10.422
  7 in total
  2 in total

Review 1.  Magnetic resonance imaging in lactic acidosis.

Authors:  M S van der Knaap; C Jakobs; J Valk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.