Fathiya AL-Murshedi

Dr.

  • 366 Citations
  • 9 h-Index
20112019
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Fingerprint Dive into the research topics where Fathiya AL-Murshedi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles
Exome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Inborn Errors Metabolism Medicine & Life Sciences
Cytochrome-c Oxidase Deficiency Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Heterogeneity Medicine & Life Sciences

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Research Output 2011 2019

  • 366 Citations
  • 9 h-Index
  • 25 Article
  • 1 Chapter
  • 1 Abstract

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects

Almannai, M., Felemban, R., Saleh, M. A., Faqeih, E. A., Alasmari, A., AlHashem, A., Mohamed, S., Sunbul, R., AL-Murshedi, F., Al-Thihli, K., Eyaid, W., Ali, R., Ben-Omran, T., Blau, N., El-Hattab, A. W. & Alfadhel, M., Jan 1 2019, In : Pediatric Neurology.

Research output: Contribution to journalArticle

Open Access
Phenylketonurias
Molecular Biology
Aromatic Amino Acids
Middle East
Hydroxylation

Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome

Kiran, S., AL-Murshedi, F., Jabri, S. A. & Devi, M. N., Jan 1 2018, (Accepted/In press) In : Journal of Obstetrics and Gynaecology Canada.

Research output: Contribution to journalArticle

Breech Presentation
Pregnant Women
Acetyl-CoA C-Acetyltransferase
Ketone Bodies
Pregnancy
Congenital Hyperinsulinism
Maple Syrup Urine Disease
Urine
Hypoglycemia
Isoleucine

Encephalopathy mimicking non-convulsive status epilepticus

Nandhagopal, R., Al-Murshedi, F., Al-Busaidi, M. & Al-Busaidi, A., Jan 1 2018, In : Neurosciences. 23, 1, p. 52-56 5 p.

Research output: Contribution to journalArticle

Status Epilepticus
Brain Diseases
Inborn Urea Cycle Disorder
Differential Diagnosis
Therapeutics
2 Citations (Scopus)

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, L., Al-Owain, M. A., Busehail, M., Alotaibi, M. A., Monies, D., Aldhalaan, H. M., Alhashem, A., Al-Hassnan, Z. N., Rahbeeni, Z. A., Murshedi, F. A., Ani, N. A., Al-Maawali, A., Ibrahim, N. A., Abdulwahab, F. M., Alsagob, M., Hashem, M. O., Ramadan, W., Abouelhoda, M., Meyer, B. F., Kaya, N. & 2 others, Maddirevula, S. & Alkuraya, F. S., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 715-721 7 p.

Research output: Contribution to journalArticle

Eye Abnormalities
Corpus Callosum
Intellectual Disability
Epilepsy
Agenesis of Corpus Callosum