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Khalid Al-Thihli

Showing results (1-10 of 67) with videos related to

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Current Opinion in Ophthalmology|July 23, 2013
An update on ocular involvement in mucopolysaccharidosesAnuradha Ganesh, Zandre Bruwer, Khalid Al-Thihli
Molecular Genetics and Metabolism|May 4, 2012
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?Saadet Mercimek-Mahmutoglu, Khalid Al-Thihli, Elke Roland
The Neurodiagnostic Journal|August 27, 2021
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical SignificanceRajesh P Poothrikovil, Khalid Al Thihli, Amna Al Futaisi
The Journal of Rheumatology|August 3, 2015
TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q VariantReem Abdwani, Eiman Abdalla, Safiya Al Abrawi, et al.
Journal of Neuromuscular Diseases|January 15, 2023
MLIP-Associated Myopathy: A Case Report and Review of the LiteratureFatema Al Amrani, Khalid Al-Thihli, Gayathri Narayanappa, et al.
Metabolic Brain Disease|April 8, 2017
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuriaFatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, et al.
Sultan Qaboos University Medical Journal|November 26, 2013
Megalencephalic leukoencephalopathy with subcortical cystsRoshan Koul, Khalid Al-Thihli, Faisal Al-Azri, et al.
European Journal of Human Genetics : EJHG|November 12, 2021
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiencyBushra Al Shamsi, Fathiya Al Murshedi, Asila Al Habsi, et al.
Archives of Disease in Childhood|March 28, 2013
Drug treatment of inborn errors of metabolism: a systematic reviewMajid Alfadhel, Khalid Al-Thihli, Hiba Moubayed, et al.
Oman Medical Journal|October 3, 2022
Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass SpectrometrySulaiman Al-Riyami, Matar Al-Manei, Assad Al-Fahdi, et al.
Pageof 7

Showing results (1-10 of 67) with videos related to

Sort By:
Pageof 7
Current Opinion in Ophthalmology|July 23, 2013
An update on ocular involvement in mucopolysaccharidosesAnuradha Ganesh, Zandre Bruwer, Khalid Al-Thihli
Molecular Genetics and Metabolism|May 4, 2012
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?Saadet Mercimek-Mahmutoglu, Khalid Al-Thihli, Elke Roland
The Neurodiagnostic Journal|August 27, 2021
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical SignificanceRajesh P Poothrikovil, Khalid Al Thihli, Amna Al Futaisi
The Journal of Rheumatology|August 3, 2015
TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q VariantReem Abdwani, Eiman Abdalla, Safiya Al Abrawi, et al.
Journal of Neuromuscular Diseases|January 15, 2023
MLIP-Associated Myopathy: A Case Report and Review of the LiteratureFatema Al Amrani, Khalid Al-Thihli, Gayathri Narayanappa, et al.
Metabolic Brain Disease|April 8, 2017
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuriaFatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, et al.
Sultan Qaboos University Medical Journal|November 26, 2013
Megalencephalic leukoencephalopathy with subcortical cystsRoshan Koul, Khalid Al-Thihli, Faisal Al-Azri, et al.
European Journal of Human Genetics : EJHG|November 12, 2021
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiencyBushra Al Shamsi, Fathiya Al Murshedi, Asila Al Habsi, et al.
Archives of Disease in Childhood|March 28, 2013
Drug treatment of inborn errors of metabolism: a systematic reviewMajid Alfadhel, Khalid Al-Thihli, Hiba Moubayed, et al.
Oman Medical Journal|October 3, 2022
Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass SpectrometrySulaiman Al-Riyami, Matar Al-Manei, Assad Al-Fahdi, et al.
Pageof 7