Khalid Al-Thihli

Dr.

  • 353 Citations
  • 11 h-Index
20082019

Research output per year

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Research Output

  • 353 Citations
  • 11 h-Index
  • 29 Article
  • 2 Chapter
  • 1 Abstract
2019

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

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

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
12 Citations (Scopus)
2018

Expanding the clinical and genetic spectra of NKX6-2-related disorder

Baldi, C., Bertoli-Avella, A. M., Al-Sannaa, N., Alfadhel, M., Al-Thihli, K., Alameer, S., Elmonairy, A. A., Al Shamsi, A. M., Abdelrahman, H. A., Al-Gazali, L., Shawli, A., Al-Hakami, F., Yavuz, H., Kandaswamy, K. K., Rolfs, A., Brandau, O. & Bauer, P., May 1 2018, In : Clinical Genetics. 93, 5, p. 1087-1092 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

Suleiman, J., Al Hashem, A. M., Tabarki, B., Al-Thihli, K., Bi, W. & El-Hattab, A. W., Oct 1 2018, In : Clinical Genetics. 94, 3-4, p. 351-355 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
8 Citations (Scopus)
2017

A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria

Rabah, F., Al-Thihli, K., El-Naggari, M. & Elnour, I. B., Apr 7 2017, (Accepted/In press) In : Metabolic Brain Disease. p. 1-3 3 p.

Research output: Contribution to journalArticle

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

Mameesh, M., Ganesh, A., Harikrishna, B., Al Zuhaibi, S., Scott, P., Al Kalbani, S. & Al Thihli, K., May 18 2017, (Accepted/In press) In : Ophthalmic Genetics. p. 1-5 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: A single center experience

Bruwer, Z., Al Riyami, N., Al Dughaishi, T., Al Murshedi, F., Al Sayegh, A., Al Kindy, A., Meftah, D., Al Kharusi, K., Al Foori, A., Al Yarubi, N., Scott, P. & Al-Thihli, K., Aug 19 2017, (Accepted/In press) In : Unknown Journal.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Ocular manifestations of inborn errors of metabolism

Ganesh, A., Al-Murshedi, F., Al-Zuhaibi, S. & Al-Thihli, K., Jan 1 2017, The Eye in Pediatric Systemic Disease. Springer International Publishing, p. 359-460 102 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Citations (Scopus)

Segmental spinal muscular atrophy localised to the lower limbs: First case from Oman

Koul, R., Al-Futaisi, A., Al-Thihli, K., Bruwer, Z. & Scott, P., Aug 1 2017, In : Sultan Qaboos University Medical Journal. 17, 3, p. e355-e357

Research output: Contribution to journalArticle

1 Citation (Scopus)

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., Bohlega, S., Faqeih, E., Faden, M., Alyounes, B., Jaroudi, D., Goljan, E., Elbardisy, H., Akilan, A. & 87 others, Albar, R., Aldhalaan, H., Gulab, S., Chedrawi, A., Al Saud, B. K., Kurdi, W., Makhseed, N., Alqasim, T., El Khashab, H. Y., Al-Mousa, H., Alhashem, A., Kanaan, I., Algoufi, T., Alsaleem, K., Basha, T. A., Al-Murshedi, F., Khan, S., Al-Kindy, A., Alnemer, M., Al-Hajjar, S., Alyamani, S., Aldhekri, H., Al-Mehaidib, A., Arnaout, R., Dabbagh, O., Shagrani, M., Broering, D., Tulbah, M., Alqassmi, A., Almugbel, M., AlQuaiz, M., Alsaman, A., Al-Thihli, K., Sulaiman, R. A., Al-Dekhail, W., Alsaegh, A., Bashiri, F. A., Qari, A., Alhomadi, S., Alkuraya, H., Alsebayel, M., Hamad, M. H., Szonyi, L., Abaalkhail, F., Al-Mayouf, S. M., Almojalli, H., Alqadi, K. S., Elsiesy, H., Shuaib, T. M., Seidahmed, M. Z., Abosoudah, I., Akleh, H., AlGhonaium, A., Alkharfy, T. M., Al Mutairi, F., Eyaid, W., Alshanbary, A., Sheikh, F. R., Alsohaibani, F. I., Alsonbul, A., Al Tala, S., Balkhy, S., Bassiouni, R., Alenizi, A. S., Hussein, M. H., Hassan, S., Khalil, M., Tabarki, B., Alshahwan, S., Oshi, A., Sabr, Y., Alsaadoun, S., Salih, M. A., Mohamed, S., Sultana, H., Tamim, A., El-Haj, M., Alshahrani, S., Bubshait, D. K., Alfadhel, M., Faquih, T., El-Kalioby, M., Subhani, S., Shah, Z., Moghrabi, N., Meyer, B. F. & Alkuraya, F. S., Aug 1 2017, In : Human Genetics. 136, 8, p. 921-939 19 p.

Research output: Contribution to journalArticle

68 Citations (Scopus)
2016

EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W., Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D. T., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N. J., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., Mar 1 2016, In : Brain. 139, 3, p. 765-781 17 p.

Research output: Contribution to journalArticle

35 Citations (Scopus)

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, M., Al Mutairi, F., Makhseed, N., Al Jasmi, F., Al-Thihli, K., Al-Jishi, E., AlSayed, M., Al-Hassnan, Z. N., Al-Murshedi, F., Häberle, J., Ben-Omran, T. & Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG), Mar 31 2016, In : Therapeutics and Clinical Risk Management. 12, p. 479-487 9 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2015
4 Citations (Scopus)

Rigid spine syndrome among children in Oman

Koul, R., Sankhla, D., Al-Jahdhami, S., Mani, R., Rahim, R. A., Al-Yaarubi, S., Al-Kindy, H., Al-Thihli, K. & Al-Futaisi, A., 2015, In : Sultan Qaboos University Medical Journal. 15, 3, p. e364-e369

Research output: Contribution to journalArticle

2 Citations (Scopus)
2014
12 Citations (Scopus)

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Al-Thihli, K., Sinclair, G., Sirrs, S., Mezei, M., Nelson, J. & Vallance, H., 2014, In : Journal of Inherited Metabolic Disease. 37, 2, p. 207-213 7 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Rigid spinal muscular dystrophy and rigid spine syndrome: Report of 7 children

Koul, R., Al-Yarubi, S., Al-Kindy, H., Al-Futaisi, A., Al-Thihli, K., Chacko, P. A. & Sankhla, D., Nov 8 2014, In : Journal of Child Neurology. 29, 11, p. 1436-1440 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2013

An update on ocular involvement in mucopolysaccharidoses

Ganesh, A., Bruwer, Z. & Al-Thihli, K., Sep 2013, In : Current Opinion in Ophthalmology. 24, 5, p. 379-388 10 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Drug treatment of inborn errors of metabolism: A systematic review

Alfadhel, M., Al-Thihli, K., Moubayed, H., Eyaid, W. & Al-Jeraisy, M., Jun 2013, In : Archives of Disease in Childhood. 98, 6, p. 454-461 8 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Megalencephalic leukoencephalopathy with subcortical cysts

Koul, R., Al-Thihli, K., Al-Azri, F. & Al-Futaisi, A., Nov 2013, In : Sultan Qaboos University Medical Journal. 13, 4, p. 585-586 2 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2012

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

Al-Thihli, K., Ebrahim, H., Hughes, D. A., Patel, M., Tipple, M., Salvarinova, R., Gardiner, J., Vallance, H. & Waters, P. J., Apr 15 2012, In : Gene. 497, 2, p. 320-322 3 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Enhanced interpretation of newborn screening results without analyte cutoff values

Marquardt, G., Currier, R., McHugh, D. M. S., Gavrilov, D., Magera, M. J., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., Smith, E. H., Tortorelli, S., Turgeon, C. T., Lorey, F., Wilcken, B., Wiley, V., Greed, L. C., Lewis, B., Boemer, F., Schoos, R., Marie, S. & 107 others, Vincent, M. F., Sica, Y. C., Domingos, M. T., Al-Thihli, K., Sinclair, G., Al-Dirbashi, O. Y., Chakraborty, P., Dymerski, M., Porter, C., Manning, A., Seashore, M. R., Quesada, J., Reuben, A., Chrastina, P., Hornik, P., Atef Mandour, I., Atty Sharaf, S. A., Bodamer, O., Dy, B., Torres, J., Zori, R., Cheillan, D., Vianey-Saban, C., Ludvigson, D., Stembridge, A., Bonham, J., Downing, M., Dotsikas, Y., Loukas, Y. L., Papakonstantinou, V., Zacharioudakis, G. S. A., Baráth, K., Karg, E., Franzson, L., Jonsson, J. J., Breen, N. N., Lesko, B. G., Berberich, S. L., Turner, K., Ruoppolo, M., Scolamiero, E., Antonozzi, I., Carducci, C., Caruso, U., Cassanello, M., La Marca, G., Pasquini, E., Di Gangi, I. M., Giordano, G., Camilot, M., Teofoli, F., Manos, S. M., Peterson, C. K., Mayfield Gibson, S. K., Sevier, D. W., Lee, S. Y., Park, H. D., Khneisser, I., Browning, P., Gulamali-Majid, F., Watson, M. S., Eaton, R. B., Sahai, I., Ruiz, C., Torres, R., Seeterlin, M. A., Stanley, E. L., Hietala, A., McCann, M., Campbell, C., Hopkins, P. V., De Sain-Van Der Velden, M. G., Elvers, B., Morrissey, M. A., Sunny, S., Knoll, D., Webster, D., Frazier, D. M., McClure, J. D., Sesser, D. E., Willis, S. A., Rocha, H., Vilarinho, L., John, C., Lim, J., Caldwell, S. G., Tomashitis, K., Castĩeiras Ramos, D. E., Cocho De Juan, J. A., Rueda Fernández, I., Yahyaoui MacÍas, R., Egea-Mellado, J. M., González-Gallego, I., Delgado Pecellin, C., García-Valdecasas Bermejo, M. S., Chien, Y. H., Hwu, W. L., Childs, T., McKeever, C. D., Tanyalcin, T., Abdulrahman, M., Queijo, C., Lemes, A., Davis, T., Hoffman, W., Mei, B. & Hoffman, G. L., Jul 2012, In : Genetics in Medicine. 14, 7, p. 648-655 8 p.

Research output: Contribution to journalArticle

64 Citations (Scopus)

Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?

Mercimek-Mahmutoglu, S., Al-Thihli, K. & Roland, E., Jun 2012, In : Molecular Genetics and Metabolism. 106, 2, p. 251-252 2 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2011

Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melançon, S., Anastasio, N., Ha, K. C. H., Majewski, J., Rosenblatt, D. S. & Braverman, N., Sep 2011, In : Journal of Medical Genetics. 48, 9, p. 602-605 4 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Pilozzi-Edmonds, L., Maher, T. A., Basran, R. K., Milunsky, A., Al-Thihli, K., Braverman, N. E. & Alfares, A., Aug 2011, In : American Journal of Medical Genetics, Part A. 155, 8, p. 1987-1990 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2009

A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis

Al-Thihli, K., Palma, L., Marcus, V., Cesari, M., Kushner, Y. B., Barkun, A. & Foulkes, W. D., 2009, In : Nature Clinical Practice Gastroenterology and Hepatology. 6, 3, p. 184-189 6 p.

Research output: Contribution to journalArticle

22 Citations (Scopus)
2008

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

Al-Thihli, K., Rudkin, T., Carson, N., Poulin, C., Melançon, S. & Der Kaloustian, V. M., Sep 15 2008, In : American Journal of Medical Genetics, Part A. 146, 18, p. 2412-2416 5 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)