Khalid Al-Thihli

Dr.

  • 325 Citations
  • 10 h-Index
20082019
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Fingerprint Dive into the research topics where Khalid Al-Thihli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles
Inborn Errors Metabolism Medicine & Life Sciences
Oman Medicine & Life Sciences
Exome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences

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Research Output 2008 2019

  • 325 Citations
  • 10 h-Index
  • 29 Article
  • 2 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

Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases: Single-centre experience

Shanmugam, N. P., Valamparampil, J. J., Reddy, M. S., Al Said, K. J., Al-Thihli, K., Al-Hashmi, N., Al-Jishi, E., Isa, H. M. A., Jalan, A. B. & Rela, M., Jan 1 2019, JIMD Reports. Springer, p. 29-36 8 p. (JIMD Reports; vol. 45).

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolic Diseases
Liver
Liver Transplantation
Liver Diseases
Citrullinemia
Vitelliform Macular Dystrophy
Choroidal Neovascularization
Fluorescein Angiography
Optical Coherence Tomography
Genetic Testing
3 Citations (Scopus)

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

AL-Futaisi, A. & Al-Thihli, K., Mar 1 2019, In : Brain.

Research output: Contribution to journalArticle

Open Access
Congenital Hyperinsulinism
Maple Syrup Urine Disease
Urine
Hypoglycemia
Isoleucine