(Q28293561)

2

0 references

Y Gokdemir

3

0 references

F Demir

4

0 references

Y Seckin

5

0 references

M Demirkol

6

0 references

K Jensen

7

0 references

B Wolf

Journal of Inherited Metabolic Disease

8

0 references

language of work or name

English

0 references

publication date

2005

0 references

published in

0 references

volume

28

0 references

issue

6

0 references

page(s)

903-12

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-005-0161-3

A biotinidase Km variant causing late onset bilateral optic neuropathy

21 January 2018

1 reference

12 December 2020

Biotinidase deficiency with neurological features resembling multiple sclerosis

1 reference

12 December 2020

Worldwide survey of neonatal screening for biotinidase deficiency

1 reference

12 December 2020

Comparison of patients with complete and partial biotinidase deficiency: biochemical studies

1 reference

12 December 2020

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

1 reference

12 December 2020

Novel mutations cause biotinidase deficiency in Turkish children

1 reference

12 December 2020

Mutations in BTD causing biotinidase deficiency

1 reference

12 December 2020

Delayed-onset profound biotinidase deficiency

1 reference

12 December 2020

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

1 reference

12 December 2020

Biotinidase Km-variants: detection and detailed biochemical investigations

1 reference

12 December 2020

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

1 reference

12 December 2020

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

12 December 2020

Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.

1 reference

12 December 2020

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1 reference

12 December 2020

Biotinidase deficiency: a survey of 10 cases

1 reference

12 December 2020

Cerebral metabolic change after treatment in biotinidase deficiency

1 reference

12 December 2020

Profound biotinidase deficiency in two asymptomatic adults

1 reference

12 December 2020

Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin

1 reference

12 December 2020

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

1 reference

12 December 2020

Biotinidase deficiency: clinical and MRI findings consistent with myelopathy

1 reference

12 December 2020

1 reference

12 December 2020

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis

1 reference

12 December 2020

Biotinidase Deficiency: New Directions and Practical Concerns

1 reference

12 December 2020

Phenotypic variation in biotinidase deficiency

1 reference

12 December 2020

Incidence of biotinidase deficiency in Turkish newborns

1 reference

12 December 2020