(Q48359709)

English

Rett syndrome revisited: a patient with biotin dependency

scientific article published in April 1986

In more languages

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

Rett syndrome revisited: a patient with biotin dependency (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

0 references

author name string

C Bachmann

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

J Schaub

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

J P Colombo

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

B J Burri

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

L Sweetman

5

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

B Wolf

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

publication date

1 April 1986

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

144

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

563-566

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

Biotinidase deficiency: clinical course and biochemical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acids in urine: sample preparation for GC/MS

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On the diagnosis and therapy of metabolic brain damage in childhood]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Studies on the ammonia content in the serum of children with brain damage with special reference to hyperammonemia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurologic symptoms of biotinidase deficiency: possible explanation

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some properties of propionyl CoA carboxylase partially purified from human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency in juvenile multiple carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short chain fatty acids in plasma and brain: Quantitative determination by gas chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/3709567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00496036

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3709567

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