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Archives of Disease in Childhood
|
December 22, 2000
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
E H Touma, M S Rashed, C Vianey-Saban, et al.
Clinical Chemistry
|
July 1, 1997
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
M S Rashed, M P Bucknall, D Little, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Z Rahbeeni, F M Vaz, K Al-Hussein, et al.
Journal of Inherited Metabolic Disease
|
August 19, 2007
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene
O Y Al-Dirbashi, K K Abu-Amero, A F Alswaid, et al.
Annals of Saudi Medicine
|
March 8, 2007
Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening
S Soufi, M S Rashed, M Al Essa, et al.
Clinical Genetics
|
September 4, 1998
Infectious complications of propionic acidemia in Saudia Arabia
M Al Essa, Z Rahbeeni, S Jumaah, et al.
Saudi Medical Journal
|
December 18, 2001
Carnitine palmityl transferase I deficiency
A I Al-Aqeel, M S Rashed, J P Ruiter, et al.
Journal of Medical Genetics
|
October 4, 2007
The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, et al.
Journal of Inherited Metabolic Disease
|
July 17, 2007
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease
O Y Al-Dirbashi, M S Rashed, K Al-Qahtani, et al.
Journal of Child Neurology
|
June 10, 1998
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis
M Al Essa, N A Sakati, O Dabbagh, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Archives of Disease in Childhood
|
December 22, 2000
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
E H Touma, M S Rashed, C Vianey-Saban, et al.
Clinical Chemistry
|
July 1, 1997
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
M S Rashed, M P Bucknall, D Little, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Z Rahbeeni, F M Vaz, K Al-Hussein, et al.
Journal of Inherited Metabolic Disease
|
August 19, 2007
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene
O Y Al-Dirbashi, K K Abu-Amero, A F Alswaid, et al.
Annals of Saudi Medicine
|
March 8, 2007
Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening
S Soufi, M S Rashed, M Al Essa, et al.
Clinical Genetics
|
September 4, 1998
Infectious complications of propionic acidemia in Saudia Arabia
M Al Essa, Z Rahbeeni, S Jumaah, et al.
Saudi Medical Journal
|
December 18, 2001
Carnitine palmityl transferase I deficiency
A I Al-Aqeel, M S Rashed, J P Ruiter, et al.
Journal of Medical Genetics
|
October 4, 2007
The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, et al.
Journal of Inherited Metabolic Disease
|
July 17, 2007
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease
O Y Al-Dirbashi, M S Rashed, K Al-Qahtani, et al.
Journal of Child Neurology
|
June 10, 1998
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis
M Al Essa, N A Sakati, O Dabbagh, et al.
Page
of 5