Ruqaiah Altassan

Statistics

Publications

Citations

404

H-Index

Active since

2013

Affiliations

King Faisal Specialist Hospital & Research Centre(Current)

Ruqaiah Altassan is an author at King Faisal Specialist Hospital & Research Centre specializing in life sciences, genetic disorders, and molecular genetics.

ORCID

Publications per year

2013–2023

Publications

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Life Sciences, Molecular Biology, Molecular Medicine +12

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Peter Witters, Tomáš Honzík, Eric Bauchart et al. · Genetics in Medicine · 2018 · 50 citations · Full text

Pharmacy, Translational Sciences, Translational Medicine +5

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan et al. · Journal of Inherited Metabolic Disease · 2019 · 49 citations · Full text

Medicine, Biochemistry, Endocrinology +15

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

Rita Francisco, Carlota Pascoal, Dorinda Marques‐da‐Silva et al. · Journal of Clinical Medicine · 2020 · 37 citations · Full text

Life Sciences, Immunology, Autoimmunity +13

The clinical utility of rapid exome sequencing in a consanguineous population

Dorota Monies, Ewa Goljan, Abdulaziz Binmanee et al. · Genome Medicine · 2023 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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