(Q50458191)

English

[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].

scientific article published in January 2008

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scholarly article

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]. (English)

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

1 reference

based on heuristic

inferred from title

propionic acidemia

1 reference

based on heuristic

inferred from title

sensorineural hearing loss

1 reference

based on heuristic

inferred from title

author name string

S Brosch

1

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

A Rauffeisen

2

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

M Baur

3

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

L Michels

4

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

F K Trefz

5

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

M Pfister

6

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

language of work or name

0 references

publication date

1 January 2008

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

56

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

1

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

37-42

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

https://scigraph.springernature.com/pub.10.1007/s00106-007-1560-6

0 references

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I].

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New splicing mutations in propionic acidemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment].

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Molecular genetic aspects in otorhinolaryngology]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Propionic acidemia: unusual course with late onset and fatal outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathology and pathogenesis of propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/17415538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00106-007-1560-6

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/17415538

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