Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia-Reference-Cited by-同舟云学术

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Published:2019-03 Issue: Volume:18 Page:22-29
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Al-Hamed Mohamed H.,Imtiaz Faiqa^ORCID,Al-Hassnan Zuhair,Al-Owain Mohammed,Al-Zaidan Hamad,Alamoudi Mohamed S.,Faqeih Eissa,Alfadhel Majid,Al-Asmari Ali,Saleh M.M.,Al Mutairi Fuad,Moghrabi Nabil,AlSayed Moeenaldeen

Funder

King Faisal Specialist Hospital and Research Centre

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference41 articles.

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2. Experience of king faisal specialist hospital and research center with Saudi organic acid disorders;Rashed;Brain Dev.,1994

3. Infectious complications of propionic acidemia in Saudia Arabia;Al Essa;Clin. Genet.,1998

4. A new era for preventive genetic programs in the Arabian Peninsula;Al-Odaib;Saudi Med. J.,2003

5. Propionic acidaemia: demographic characteristics and complications;Rafique;J. Pediatr. Endocrinol. Metab.,2013

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4. Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations;Saudi Journal of Biological Sciences;2022-12

5. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia;Journal of Inherited Metabolic Disease;2022-11-03