Ruqaiah Saleh Altassan - Genetic Mutations

Author Information

Ruqaiah Saleh Altassan is a researcher affiliated with the Medical Genetics Department at King Faisal Specialist Hospital and Research Center, located in Riyadh, Saudi Arabia. Her contributions to the field of genetics, particularly in the study and management of congenital disorders of glycosylation and related metabolic diseases, are significant.

Research Contributions

Ruqaiah Saleh Altassan has authored numerous impactful papers, with a focus on congenital disorders of glycosylation (CDG) and related metabolic diseases. Her research has contributed to the development of international consensus guidelines for the diagnosis and management of these conditions, providing critical insights into their biochemical, molecular, and clinical aspects. Notable works include guidelines for mannose phosphate isomerase and phosphoglucomutase 1 deficiencies, as well as studies on the immunological involvement in CDG and the endocrine function in transaldolase deficiency.

Aliases

Ruqaiah Saleh Altassan is known by several aliases, including Ruqaiah S. Altassan, R Altassan, Ruqaiah Altassan, Ruqaia Altassan, and Ruqaiah Saleh Altassan.

Publication and Citation Metrics

Metric Value
Total Papers 28
Total Citations 422
H-index 11

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