Zobrazeno 1 - 10
of 35
pro vyhledávání: '"P T, Ozand"'
Publikováno v:
Child's Nervous System. 22:249-252
The aim of this study is to evaluate the benefits of early intervention in two major spondyloepiphyseal dysplasias of Saudi Arabia, namely, multiple sulfatase deficiency (MSD, Austin's disease) and Morquio's disease. The MSD is encountered frequently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b379803f713c87f60cf8937b0a4ce5c1
https://doi.org/10.1007/s00381-005-1212-7
https://doi.org/10.1007/s00381-005-1212-7
Autor:
M A, Al-Essa, N A, Sakati, S M, Bakheet, Z J, Patay, O, Dabbagh, E, Chaves-Carbello, P T, Ozand
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 5(1)
To evaluate the clinical, biochemical, neuroradiological, and neurophysiological findings of patients with X-linked adrenoleukodystrophy.Retrospective study evaluating the data of 10 X-linked adrenoleukodystrophy patients diagnosed at King Faisal Spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::98f931a3755fc286d3c5341342f7818d
https://pubmed.ncbi.nlm.nih.gov/24276660
https://pubmed.ncbi.nlm.nih.gov/24276660
Autor:
Thomas A. Baillie, S. Evans, M. E. Harrison, P. J. F. Watkins, Mohamed S. Rashed, P. T. Ozand
Publikováno v:
Rapid Communications in Mass Spectrometry. 8:129-133
A novel procedure based on electrospray tandem mass spectrometry (ESI-MS/MS) has been used in the diagnosis of organic acidemias. The method is based on the determination of acylcarnitine profiles from blood spots collected on Guthrie cards. The acyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56f75c95420598786a7f164022c32909
https://doi.org/10.1002/rcm.1290080124
https://doi.org/10.1002/rcm.1290080124
Publikováno v:
Journal of Inherited Metabolic Disease. 23:185-187
Novel mutations in children with profound biotinidase deÐciency from Saudi Arabia R. J. Pomponio1,*, P. T . Ozand3, M. Al Essa3 and B. W olf 1,2* Departments of 1Human Genetics, 2Pediatrics, Biochemistry and Molecular Biophysics, Medical College of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c54b4d53c3a4a1c46db42f7f8f2440d
https://doi.org/10.1023/a:1005626102147
https://doi.org/10.1023/a:1005626102147
Publikováno v:
Annals of Saudi medicine. 17(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764c9695393fb2677f006f7e89e8b794
https://pubmed.ncbi.nlm.nih.gov/17339793
https://pubmed.ncbi.nlm.nih.gov/17339793
Publikováno v:
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 5(6)
We considered the clinical, biochemical and radiological findings, and response to pyridoxine (vitamin B6) of 24 classic homocystinuric patients (15 females, 9 males) diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b268822559c15d4fd7893f27f134d47d
https://pubmed.ncbi.nlm.nih.gov/11924111
https://pubmed.ncbi.nlm.nih.gov/11924111
Publikováno v:
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 5(6)
We retrospectively reviewed clinical and biochemical data of four patients diagnosed with tyrosinaemia type II. Diagnosis was established by high plasma tyrosine and normal plasma phenylalanine levels using plasma high-pressure liquid chromatography
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b83d78cb6d97723f64f49dbb6b49064
https://pubmed.ncbi.nlm.nih.gov/11924112
https://pubmed.ncbi.nlm.nih.gov/11924112
Publikováno v:
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 5(6)
Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. Absence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57c4c3c03c25ac881083c1336554717e
https://pubmed.ncbi.nlm.nih.gov/11924114
https://pubmed.ncbi.nlm.nih.gov/11924114
Publikováno v:
The Southeast Asian journal of tropical medicine and public health. 30
Argininosuccinase deficiency is relatively more common in Saudi Arabia than other urea cycle detects (UCD) and its presentation is usually acute and virtually identical to the clinical presentation of other UCD. We developed a rapid, sensitive, and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aed960e9d0093b87164280178cddd0b8
https://pubmed.ncbi.nlm.nih.gov/11400762
https://pubmed.ncbi.nlm.nih.gov/11400762
Autor:
E, Al-Jishi, B F, Meyer, M S, Rashed, M, Al-Essa, M H, Al-Hamed, N, Sakati, S, Sanjad, P T, Ozand, M, Kambouris
Publikováno v:
Clinical genetics. 55(6)
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12e02eedbe83a01d20bfa2733c4448e8
https://pubmed.ncbi.nlm.nih.gov/10450861
https://pubmed.ncbi.nlm.nih.gov/10450861