Khalid Al-Thihli

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Emailalthihlisqu.eduom

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Research activity per year

1 Finished

A new paradigm for the molecular diagnosis of uncharacterized genetic disorders in the Omani population
Al-Thihli, K. (PI)
9/1/14 → 5/31/18
Project: MoHERI

56 Article
2 Chapter
2 Letter
2 Review article
More
- 1 Abstract
- 1 Comment/debate

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
Al-Thihli, K., Al Hashmi, N., Al Balushi, A., Al-Habsi, A., Al-Ajmi, E., Al-Jasmi, F. & Al-Murshedi, F., Jul 2024, In: JIMD Reports. 65, 4, p. 226-232 7 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Al-Amrani, F., Al-Thihli, K., Al-Ajmi, E., Al-Futaisi, A. & Al-Murshedi, F., Jul 2024, In: JIMD Reports. 65, 4, p. 212-225 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature
Al-Amrani, F., Al-Maawali, A., Al-Thihli, K., Al-Ajmi, E., Ganesh, A. & Al futaisi, A., Nov 1 2023, In: Pediatric Neurology. 148, p. 73-80 8 p.
Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E. & Mena, R. & 39 others, Nizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H. L., Mohr, J., Biskup, S., Loos, M. A., Aráoz, H. V., Salpietro, V., Keppen, L. D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Sawyer, L. B., Basinger, A. A., Pedersen, S. V., Pearson, T. S., Grange, D. K., Lingappa, L., McDunnah, P., Horvath, R., Cognè, B., Isidor, B., Hahn, A., Gripp, K. W., Jafarnejad, S. M., Østergaard, E., Prada, C. E., Ghezzi, D., Gowda, V. K., Taylor, R. W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G. K. & Maroofian, R., Nov 1 2023, In: Genetics in Medicine. 25, 11, p. 100938 100938.
Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)
Domino liver transplantation for maple syrup urine disease in children: A single-center case series
Kumar, V., Gautam, V., Agarwal, S., Pandey, V., Goyal, S., Nasa, V., Singh, S. A., Al-Thihli, K., Al-Murshedi, F., Al Hashmi, N., Al Rawahi, Y., Al-Bahlani, A. Q., Al Said, K. & Gupta, S., Dec 2023, In: Pediatric Transplantation. 27, 8, p. e14603 e14603.
Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)
Al-Thihli, K., ALfutaisi, A. & AL-Murshedi, F.
7/23/24
1 item of Media coverage
Press/Media: Press / Media
Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Al-Thihli, K., ALfutaisi, A., AL-Moamari, W. & AL-Murshedi, F.
11/21/23
1 item of Media coverage
Press/Media: Press / Media
New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)
Ganesh, A., Al-Thihli, K. & ALfutaisi, A.
11/2/23
1 item of Media coverage
Press/Media: Press / Media
Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)
Al-Thihli, K., AL-Murshedi, F. & Al-Shidhani, A.
9/11/23
1 item of Media coverage
Press/Media: Press / Media

Al-Thihli Khalid

Collaborations and top research areas from the last five years

Dive into details

A new paradigm for the molecular diagnosis of uncharacterized genetic disorders in the Omani population

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

Transient response to high-dose niacin therapy in a patient with NAXE deficiency

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Domino liver transplantation for maple syrup urine disease in children: A single-center case series

New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)

Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)

New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)

Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)

Al-Thihli Khalid

Collaborations and top research areas from the last five years

Projects

Research output

Press/Media