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Your search keyword '"Aldehaimi A"' showing total 4 results
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4 results on '"Aldehaimi A"'

2. Development of simple and effective PCR based assay to detect

Author

Ali, Al-Asmari, Abdul Ali, Peer-Zada, Abdulwahed, AlDehaimi, Constantin, Polychronakos, and Aziz A, Chentoufi

Abstract

The aim of this study is to develop a rapid and effective method to screen for Saudi carriers of one of the most common propionic acidemia mutations (c.425G A) and to study the functional impact of this mutation. Using allele-specific primers, we have developed a qPCR assay that clearly distinguishes heterozygotes from mutated and wild type homozygotes that overcome the dependence on labor-intensive gene sequencing. We show here that (

Published
2021

3. Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype

Author

and Naif A M Almontashiri, Eissa Faqeih, Alaa M Alayed, Abdulwahed Aldehaimi, and Roy W A Peake

Subjects
medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Infant, Metabolic acidosis, Hypoglycemia, medicine.disease, Phenotype, Endocrinology, Internal medicine, Mutation, medicine, Humans, Abnormalities, Multiple, Female, Thiolester Hydrolases, Acidosis, business, Amino Acid Metabolism, Inborn Errors
Published
2020
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